1 · 3 · 7 · 15 · 16 · 17 · 21 · 22 · A · B · C · D · E · F · G · H · I · J · K · L · M · N · O · P · R · S · T · U · V · W · X · Y · Z
1
- 1q21.1 Recurrent Deletion
Rose Guo and Chad R Haldeman-Englert.
Initial Posting: February 24, 2011; Last Update: February 1, 2024.
3
- 3q29 Recurrent Deletion
Jennifer Gladys Mulle, Michael J Gambello, Rossana Sanchez Russo, Melissa M Murphy, T Lindsey Burrell, Cheryl Klaiman, Stormi White, Celine A Saulnier, Elaine F Walker, Joseph F Cubells, Sarah Shultz, and Longchuan Li.
Initial Posting: September 22, 2016; Last Update: July 1, 2021.
7
- 7q11.23 Duplication Syndrome
Carolyn B Mervis, Colleen A Morris, Bonita P Klein-Tasman, Shelley L Velleman, and Lucy R Osborne.
Initial Posting: November 25, 2015; Last Update: March 25, 2021.
15
- 15q13.3 Recurrent Deletion
Bregje WM van Bon, Heather C Mefford, Bert BA de Vries, and Christian P Schaaf.
Initial Posting: December 23, 2010; Last Update: November 17, 2022.
16
- 16p11.2 Recurrent Deletion
Cora M Taylor, Rebecca Smith, Christopher Lehman, Marissa W Mitchel, Kaitlyn Singer, W Curtis Weaver, and Wendy Chung.
Initial Posting: September 22, 2009; Last Update: October 28, 2021.
- 16p12.2 Recurrent Deletion
Santhosh Girirajan, Lucilla Pizzo, John Moeschler, and Jill Rosenfeld.
Initial Posting: February 26, 2015; Last Update: September 13, 2018.
17
- 17q12 Recurrent Duplication
Heather Mefford.
Initial Posting: February 25, 2016; Last Revision: January 13, 2022.
- 17q12 Recurrent Deletion Syndrome
Marissa W Mitchel, Daniel Moreno-De-Luca, Scott M Myers, Rebecca V Levy, Stefanie Turner, David H Ledbetter, and Christa L Martin.
Initial Posting: December 8, 2016; Last Update: October 15, 2020.
21
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Saroj Nimkarn, Prasanna K Gangishetti, Mabel Yau, and Maria I New.
Initial Posting: February 26, 2002; Last Update: February 4, 2016.
22
- 22q11.2 Deletion Syndrome
Donna M McDonald-McGinn, Heather S Hain, Beverly S Emanuel, and Elaine H Zackai.
Initial Posting: September 23, 1999; Last Revision: May 9, 2024.
A
- ACTG2 Visceral Myopathy
Pranjali K Bhagwat and Michael F Wangler.
Initial Posting: June 11, 2015; Last Update: May 6, 2021.
- ADAMTSL4-Related Eye Disorders
Eyvind Rødahl, Anne Elisabeth Christensen Mellgren, Nils-Erik Boonstra, and Per Morten Knappskog.
Initial Posting: February 16, 2012; Last Revision: July 9, 2020.
- ADCY5 Dyskinesia
Fuki M Hisama, Jennifer Friedman, Wendy H Raskind, and Thomas D Bird.
Initial Posting: December 18, 2014; Last Update: July 30, 2020.
- ADNP-Related Disorder
Anke Van Dijck, Geert Vandeweyer, and Frank Kooy.
Initial Posting: April 7, 2016; Last Revision: October 6, 2022.
- AIP Familial Isolated Pituitary Adenomas
Márta Korbonits and Ajith V Kumar.
Initial Posting: June 21, 2012; Last Update: April 16, 2020.
- ALK-Related Neuroblastic Tumor Susceptibility
Emily G Greengard, Melissa R Perrino, and Julie R Park.
Initial Posting: January 5, 2010; Last Update: May 23, 2024.
- ALPK1-Related Autoinflammatory Disease
Christina Kozycki, Dan Kastner, Laryssa Huryn, Shilpa Kodati, and Blake M Warner.
Initial Posting: June 27, 2024.
- ALS2-Related Disorder
Richard W Orrell.
Initial Posting: October 21, 2005; Last Update: May 13, 2021.
- ANKRD17-Related Neurodevelopmental Syndrome
Abigail Sveden, Christopher T Gordon, Jeanne Amiel, and Maya Chopra.
Initial Posting: December 22, 2022.
- ANKRD26-Related Thrombocytopenia
Juliana Perez Botero, Stefanie N Dugan, and Matthew W Anderson.
Initial Posting: June 21, 2018.
- ANO5 Muscle Disease
Sini Penttilä, Anna Vihola, Johanna Palmio, and Bjarne Udd.
Initial Posting: November 29, 2012; Last Update: August 22, 2019.
- AP-4-Associated Hereditary Spastic Paraplegia
Darius Ebrahimi-Fakhari, Robert Behne, Alexandra K Davies, and Jennifer Hirst.
Initial Posting: December 13, 2018.
- APC-Associated Polyposis Conditions
Timothy Yen, Peter P Stanich, Lisen Axell, and Swati G Patel.
Initial Posting: December 18, 1998; Last Update: May 12, 2022.
- APOB-Related Familial Hypobetalipoproteinemia
John R Burnett, Amanda J Hooper, and Robert A Hegele.
Initial Posting: May 13, 2021; Last Revision: September 9, 2021.
- ARID1B-Related Disorder
Samantha A Vergano, Pleuntje J van der Sluijs, and Gijs Santen.
Initial Posting: May 23, 2019.
- ARSACS
Sascha Vermeer, Bart P van de Warrenburg, Erik-Jan Kamsteeg, Bernard Brais, and Matthis Synofzik.
Initial Posting: December 9, 2003; Last Update: January 2, 2020.
- ASAH1-Related Disorders
David A Dyment, Steffany AL Bennett, Jeffrey A Medin, and Thierry Levade.
Initial Posting: March 29, 2018.
- ASPM Primary Microcephaly
Alain Verloes, Séverine Drunat, and Sandrine Passemard.
Initial Posting: April 2, 2020.
- ASXL3-Related Disorder
Meena Balasubramanian and Schaida Schirwani.
Initial Posting: November 5, 2020.
- ATN1-Related Neurodevelopmental Disorder
Chloe Whitton, Elizabeth Palmer, and Fowzan Alkuraya.
Initial Posting: August 25, 2022.
- ATP1A3-Related Neurologic Disorders
Allison Brashear, Kathleen J Sweadner, Jared F Cook, Kathryn J Swoboda, and Laurie Ozelius.
Initial Posting: February 7, 2008; Last Update: February 22, 2018.
- ATP6V0A2-Related Cutis Laxa
Lionel Van Maldergem, William Dobyns, and Uwe Kornak.
Initial Posting: March 19, 2009; Last Revision: March 16, 2023.
- ATP7A-Related Copper Transport Disorders
Stephen G Kaler and Andrew T DiStasio.
Initial Posting: May 9, 2003; Last Update: April 15, 2021.
- ATP8B1 Deficiency
Laura N Bull, Raffaella Morotti, and James E Squires.
Initial Posting: October 15, 2001; Last Update: September 9, 2021.
- Abetalipoproteinemia
John R Burnett, Amanda J Hooper, and Robert A Hegele.
Initial Posting: October 25, 2018; Last Revision: May 19, 2022.
- Aceruloplasminemia
Hiroaki Miyajima and Yasushi Hosoi.
Initial Posting: August 12, 2003; Last Update: September 27, 2018.
- Achondrogenesis Type 1B
Sheila Unger and Andrea Superti-Furga.
Initial Posting: August 30, 2002; Last Revision: March 16, 2023.
- Achondroplasia
Janet M Legare.
Initial Posting: October 12, 1998; Last Revision: May 11, 2023.
- Achromatopsia
Susanne Kohl, Herbert Jägle, Bernd Wissinger, and Ditta Zobor.
Initial Posting: June 24, 2004; Last Update: September 20, 2018.
- Acid Sphingomyelinase Deficiency
Melissa P Wasserstein and Edward H Schuchman.
Initial Posting: December 7, 2006; Last Update: April 27, 2023.
- Acute Intermittent Porphyria
Eliane Sardh and Michela Barbaro.
Initial Posting: September 27, 2005; Last Update: February 8, 2024.
- Adenine Phosphoribosyltransferase Deficiency
Vidar Orn Edvardsson, Amrik Sahota, and Runolfur Palsson.
Initial Posting: August 30, 2012; Last Update: September 26, 2019.
- Adenosine Deaminase 2 Deficiency
Ivona Aksentijevich, Natalia Sampaio Moura, and Karyl Barron.
Initial Posting: August 8, 2019.
- Adenosine Deaminase Deficiency
Michael Hershfield and Teresa Tarrant.
Initial Posting: October 3, 2006; Last Update: March 7, 2024.
- Adult Refsum Disease
Hans R Waterham, Ronald JA Wanders, and Bart P Leroy.
Initial Posting: March 20, 2006; Last Update: September 30, 2021.
- Aicardi Syndrome
V Reid Sutton and Ignatia B Van den Veyver.
Initial Posting: June 30, 2006; Last Update: November 12, 2020.
- Aicardi-Goutières Syndrome
Yanick J Crow.
Initial Posting: June 29, 2005; Last Update: November 22, 2016.
- Alagille Syndrome
Nancy B Spinner, Kathleen M Loomes, Ian D Krantz, and Melissa A Gilbert.
Initial Posting: May 19, 2000; Last Update: January 4, 2024.
- Alexander Disease
Siddharth Srivastava, Amy Waldman, and Sakkubai Naidu.
Initial Posting: November 15, 2002; Last Update: November 12, 2020.
- Alkaptonuria
Wendy J Introne, Monique Perry, and Marcus Chen.
Initial Posting: May 9, 2003; Last Update: June 10, 2021.
- Allan-Herndon-Dudley Syndrome
Catherine Sarret, Isabelle Oliver Petit, and Davide Tonduti.
Initial Posting: March 9, 2010; Last Update: January 16, 2020.
- Alpha-1 Antitrypsin Deficiency
James K Stoller, Vera Hupertz, and Loutfi S Aboussouan.
Initial Posting: October 27, 2006; Last Revision: June 1, 2023.
- Alpha-Mannosidosis
Can Ficicioglu and Karolina M Stepien.
Initial Posting: October 11, 2001; Last Update: June 13, 2024.
- Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
Roger E Stevenson.
Initial Posting: June 19, 2000; Last Update: May 28, 2020.
- Alpha-Thalassemia
Hannah Tamary and Orly Dgany.
Initial Posting: November 1, 2005; Last Revision: May 23, 2024.
- Alport Syndrome
Clifford E Kashtan.
Initial Posting: August 28, 2001; Last Update: February 21, 2019.
- Alström Syndrome
Richard B Paisey, Rick Steeds, Tim Barrett, Denise Williams, Tarekegn Geberhiwot, and Meral Gunay-Aygun.
Initial Posting: February 7, 2003; Last Update: June 13, 2019.
- Alzheimer Disease Overview
Thomas D Bird.
Initial Posting: October 23, 1998; Last Update: December 20, 2018.
- Amyotrophic Lateral Sclerosis Overview
Nailah Siddique and Teepu Siddique.
Initial Posting: March 23, 2001; Last Revision: September 28, 2023.
- Andersen-Tawil Syndrome
Aravindhan Veerapandiyan, Jeffrey M Statland, and Rabi Tawil.
Initial Posting: November 22, 2004; Last Update: June 7, 2018.
- Androgen Insensitivity Syndrome
Bruce Gottlieb and Mark A Trifiro.
Initial Posting: March 24, 1999; Last Update: May 11, 2017.
- Angelman Syndrome
Aditi I Dagli, Jennifer Mathews, and Charles A Williams.
Initial Posting: September 15, 1998; Last Update: April 22, 2021.
- Apert Syndrome
Tara L Wenger, Anne V Hing, and Kelly N Evans.
Initial Posting: May 30, 2019.
- Arginase Deficiency
Angela Sun, Eric A Crombez, and Derek Wong.
Initial Posting: October 21, 2004; Last Update: May 28, 2020.
- Argininosuccinate Lyase Deficiency
Sandesh C Sreenath Nagamani, Ayelet Erez, and Brendan Lee.
Initial Posting: February 3, 2011; Last Update: March 28, 2019.
- Aromatic L-Amino Acid Decarboxylase Deficiency
Nenad Blau, Toni S Pearson, Manju A Kurian, and Sarah H Elsea.
Initial Posting: October 12, 2023.
- Arrhythmogenic Right Ventricular Cardiomyopathy Overview
Elizabeth McNally, Heather MacLeod, and Lisa Dellefave-Castillo.
Initial Posting: April 18, 2005; Last Update: May 11, 2023.
- Arterial Tortuosity Syndrome
Bert Callewaert, Anne De Paepe, and Paul Coucke.
Initial Posting: November 13, 2014; Last Revision: February 23, 2023.
- Arylsulfatase A Deficiency
Natalia Gomez-Ospina.
Initial Posting: May 30, 2006; Last Revision: April 25, 2024.
- Asparagine Synthetase Deficiency
Majid Alfadhel and Ayman W El-Hattab.
Initial Posting: September 20, 2018.
- Aspartylglucosaminuria
Kimberly Goodspeed, Xin Chen, and Michel Tchan.
Initial Posting: January 18, 2024.
- Ataxia with Oculomotor Apraxia Type 2
Maria-Ceu Moreira and Michel Koenig.
Initial Posting: November 15, 2004; Last Update: July 12, 2018.
- Ataxia with Vitamin E Deficiency
Markus Schuelke.
Initial Posting: May 20, 2005; Last Update: March 16, 2023.
- Ataxia-Telangiectasia
Stefanie Veenhuis, Nienke van Os, Corry Weemaes, Erik-Jan Kamsteeg, and Michèl Willemsen.
Initial Posting: March 19, 1999; Last Update: October 5, 2023.
- Au-Kline Syndrome
Ping-Yee Billie Au, Vanda McNiven, Lindsay Phillips, A Micheil Innes, and Antonie D Kline.
Initial Posting: April 18, 2019; Last Update: February 1, 2024.
- Autoimmune Lymphoproliferative Syndrome
Jack JH Bleesing, Chinmayee B Nagaraj, and Kejian Zhang.
Initial Posting: September 14, 2006; Last Update: August 24, 2017.
- Autosomal Dominant Epilepsy with Auditory Features
Roberto Michelucci, Elena Pasini, and Emanuela Dazzo.
Initial Posting: April 20, 2007; Last Update: May 9, 2024.
- Autosomal Dominant Robinow Syndrome
Maian Roifman, Han Brunner, Jamie Lohr, Juliana Mazzeu, and David Chitayat.
Initial Posting: January 8, 2015; Last Revision: October 3, 2019.
- Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy
Hirokazu Kurahashi and Shinichi Hirose.
Initial Posting: May 16, 2002; Last Update: March 23, 2023.
- Autosomal Dominant TRPV4 Disorders
Brett A McCray, Alice Schindler, Julie E Hoover-Fong, and Charlotte J Sumner.
Initial Posting: May 15, 2014; Last Update: September 17, 2020.
- Autosomal Dominant Tubulointerstitial Kidney Disease – MUC1
Anthony J Bleyer, Martina Živná, Kendrah Kidd, and Stanislav Kmoch.
Initial Posting: August 15, 2013; Last Update: October 21, 2021.
- Autosomal Dominant Tubulointerstitial Kidney Disease – REN
Martina Živná, Kendrah Kidd, Stanislav Kmoch, and Anthony J Bleyer.
Initial Posting: April 5, 2011; Last Update: December 10, 2020.
- Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD
Anthony J Bleyer, Kendrah Kidd, Martina Živná, and Stanislav Kmoch.
Initial Posting: January 12, 2007; Last Revision: December 23, 2021.
- Autosomal Recessive Congenital Ichthyosis
Gabriele Richard.
Initial Posting: January 10, 2001; Last Update: April 20, 2023.
- Autosomal Recessive Polycystic Kidney Disease – PKHD1
Kathrin Burgmaier, Charlotte Gimpel, Franz Schaefer, and Max Liebau.
Initial Posting: July 19, 2001; Last Update: April 4, 2024.
- Aymé-Gripp Syndrome
Shivarajan Manickavasagam Amudhavalli, Randi Gadea, and Karen Gripp.
Initial Posting: February 6, 2020.
B
- BAP1 Tumor Predisposition Syndrome
Robert Pilarski, Maria I Carlo, Colleen Cebulla, and Mohamed Abdel-Rahman.
Initial Posting: October 13, 2016; Last Revision: March 24, 2022.
- BCL11A-Related Intellectual Disability
Angela Peron, Kimberley Bradbury, David H Viskochil, and Cristina Dias.
Initial Posting: September 26, 2019.
- BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
Nancie Petrucelli, Mary B Daly, and Tuya Pal.
Initial Posting: September 4, 1998; Last Revision: September 21, 2023.
- BSCL2-Related Neurologic Disorders / Seipinopathy
Daisuke Ito.
Initial Posting: December 6, 2005; Last Update: May 24, 2018.
- Bachmann-Bupp Syndrome
Caleb Bupp, Julianne Michael, Elizabeth VanSickle, Surender Rajasekaran, and André Stephan Bachmann.
Initial Posting: August 25, 2022.
- Baller-Gerold Syndrome
Lionel Van Maldergem, Juliette Piard, Lidia Larizza, and Lisa L Wang.
Initial Posting: August 13, 2007; Last Update: April 19, 2018.
- Baraitser-Winter Cerebrofrontofacial Syndrome
Alain Verloes, Séverine Drunat, Daniela Pilz, and Nataliya Di Donato.
Initial Posting: November 19, 2015; Last Update: March 24, 2022.
- Bardet-Biedl Syndrome Overview
RaeLynn Forsyth and Meral Gunay-Aygun.
Initial Posting: July 14, 2003; Last Revision: March 23, 2023.
- Barth Syndrome
Carlos Ferreira, Germaine Pierre, Reid Thompson, and Hilary Vernon.
Initial Posting: October 9, 2014; Last Update: July 9, 2020.
- Beckwith-Wiedemann Syndrome
Cheryl Shuman, Jennifer M Kalish, and Rosanna Weksberg.
Initial Posting: March 3, 2000; Last Revision: September 21, 2023.
- Berardinelli-Seip Congenital Lipodystrophy
Lionel Van Maldergem.
Initial Posting: September 8, 2003; Last Update: December 8, 2016.
- Bestrophinopathies
Ian M MacDonald, Thomas Lee, and Jessica Lawrence.
Initial Posting: September 30, 2003; Last Update: July 16, 2020.
- Beta-Propeller Protein-Associated Neurodegeneration
Allison Gregory, Manju A Kurian, Tobias Haack, Susan J Hayflick, and Penelope Hogarth.
Initial Posting: February 16, 2017.
- Beta-Thalassemia
Arielle L Langer.
Initial Posting: September 28, 2000; Last Revision: February 8, 2024.
- Bietti Crystalline Dystrophy
Mauricio Vargas, Amanda Mitchell, Paul Yang, and Richard Weleber.
Initial Posting: April 12, 2012; Last Update: February 7, 2019.
- Biotin-Thiamine-Responsive Basal Ganglia Disease
Brahim Tabarki, Amal Al-Hashem, and Majid Alfadhel.
Initial Posting: November 21, 2013; Last Revision: August 20, 2020.
- Biotinidase Deficiency
Barry Wolf.
Initial Posting: March 24, 2000; Last Update: May 25, 2023.
- Birt-Hogg-Dubé Syndrome
Elke C Sattler and Ortrud K Steinlein.
Initial Posting: February 27, 2006; Last Update: January 30, 2020.
- Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
Hannah Verdin, Charlotte Matton, and Elfride De Baere.
Initial Posting: July 8, 2004; Last Update: March 10, 2022.
- Bloom Syndrome
Katherine Langer, Christopher M Cunniff, and Nicole Kucine.
Initial Posting: March 22, 2006; Last Update: October 12, 2023.
- Bohring-Opitz Syndrome
Bianca Russell, Wen-Hann Tan, and John M Graham, Jr.
Initial Posting: February 15, 2018.
- Branchiooculofacial Syndrome
Angela E Lin, Chad R Haldeman-Englert, and Jeff M Milunsky.
Initial Posting: May 31, 2011; Last Update: September 28, 2023.
- Branchiootorenal Spectrum Disorder
Richard JH Smith.
Initial Posting: March 19, 1999; Last Update: September 6, 2018.
- Brugada Syndrome
Ramon Brugada, Oscar Campuzano, Georgia Sarquella-Brugada, Pedro Brugada, Josep Brugada, and Kui Hong.
Initial Posting: March 31, 2005; Last Update: August 25, 2022.
- Bryant-Li-Bhoj Neurodevelopmental Syndrome
Laura Bryant and Elizabeth Bhoj.
Initial Posting: September 28, 2023.
C
- C3 Glomerulopathy
Bertha Martín and Richard JH Smith.
Initial Posting: July 20, 2007; Last Update: April 5, 2018.
- C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis
Helena Gossye, Sebastiaan Engelborghs, Christine Van Broeckhoven, and Julie van der Zee.
Initial Posting: January 8, 2015; Last Update: December 17, 2020.
- CACNA1C-Related Disorders
Carlo Napolitano, Katherine W Timothy, Raffaella Bloise, and Silvia G Priori.
Initial Posting: February 15, 2006; Last Update: February 11, 2021.
- CADASIL
Remco J Hack, Julie Rutten, and Saskia AJ Lesnik Oberstein.
Initial Posting: March 15, 2000; Last Update: March 14, 2019.
- CASK Disorders
Ute Moog and Kerstin Kutsche.
Initial Posting: November 26, 2013; Last Update: May 21, 2020.
- CDC73-Related Disorders
Catherine M Skefos, Steven G Waguespack, Nancy D Perrier, and Mimi I Hu.
Initial Posting: December 31, 2008; Last Update: September 21, 2023.
- CDK13-Related Disorder
Bret Bostwick.
Initial Posting: January 31, 2019.
- CDKL5 Deficiency Disorder
Tim A Benke, Scott Demarest, Katie Angione, Jenny Downs, Helen Leonard, Jacinta Saldaris, Eric D Marsh, Heather Olson, and Isabel Haviland.
Initial Posting: April 11, 2024.
- CEBPA-Associated Familial Acute Myeloid Leukemia (AML)
Kiran Tawana and Jude Fitzgibbon.
Initial Posting: October 21, 2010; Last Update: February 18, 2021.
- CHCHD10-Related Disorders
Samira Ait-El-Mkadem Saadi, Annabelle Chaussenot, Sylvie Bannwarth, Cécile Rouzier, and Véronique Paquis-Flucklinger.
Initial Posting: July 1, 2015; Last Update: May 27, 2021.
- CHD2-Related Neurodevelopmental Disorders
Gemma L Carvill and Heather C Mefford.
Initial Posting: December 10, 2015; Last Update: January 21, 2021.
- CHD4 Neurodevelopmental Disorder
Karin Weiss and Katherine Lachlan.
Initial Posting: September 3, 2020.
- CHD7 Disorder
Conny M van Ravenswaaij-Arts, Meg Hefner, Kim Blake, and Donna M Martin.
Initial Posting: October 2, 2006; Last Revision: September 29, 2022.
- CHD8-Related Neurodevelopmental Disorder with Overgrowth
Marissa W Mitchel, Scott M Myers, Alexis R Heidlebaugh, Cora M Taylor, Hannah Rea, Emily Neuhaus, Evangeline C Kurtz-Nelson, Rachel Earl, Raphael Bernier, David H Ledbetter, Christa L Martin, and Evan E Eichler.
Initial Posting: October 27, 2022.
- CHKB-Related Muscular Dystrophy
Sophelia HS Chan and Ichizo Nishino.
Initial Posting: March 30, 2023.
- CHMP2B Frontotemporal Dementia
Peter Roos, Ida E Holm, Jørgen E Nielsen, Troels T Nielsen, Jeremy M Brown, Peter Johannsen, and Adrian M Isaacs.
Initial Posting: August 23, 2007; Last Update: July 2, 2020.
- CLCN2-Related Leukoencephalopathy
Rogier Min, Christel Depienne, Frederic Sedel, Truus EM Abbink, and Marjo S van der Knaap.
Initial Posting: November 5, 2015; Last Update: May 20, 2021.
- CLCN4-Related Neurodevelopmental Disorder
Elizabeth Emma Palmer, Matthew Huu Nguyen, Caitlin Forwood, and Vera Kalscheuer.
Initial Posting: December 16, 2021.
- CLCN7-Related Osteopetrosis
Cristina Sobacchi, Anna Villa, Ansgar Schulz, and Uwe Kornak.
Initial Posting: February 12, 2007; Last Update: January 20, 2022.
- CLPB Deficiency
Saskia B Wortmann and Ron A Wevers.
Initial Posting: November 22, 2016; Last Update: March 10, 2022.
- COL1A1/2 Osteogenesis Imperfecta
Robert D Steiner and Donald Basel.
Initial Posting: January 28, 2005; Last Revision: March 14, 2024.
- COL4A1-Related Disorders
Emmanuelle Plaisier and Pierre Ronco.
Initial Posting: June 25, 2009; Last Update: July 7, 2016.
- COMP-Related Pseudoachondroplasia
Michael D Briggs and Michael J Wright.
Initial Posting: August 20, 2004; Last Update: November 30, 2023.
- CSF1R-Related Disorder
Jaroslaw Dulski, Christina Sundal, and Zbigniew K Wszolek.
Initial Posting: August 30, 2012; Last Update: April 4, 2024.
- CTCF-Related Disorder
Hannah Gabriela Valverde de Morales, Hsiao-Lin Wang, Kathryn Garber, Victor Corces, and Hong Li.
Initial Posting: April 25, 2024.
- CSNK2B-Related Neurodevelopmental Disorder
Natalie Lippa, Maureen Mulhern, Michelle Ernst Florido, Chelsea Earley, and Tristan T Sands.
Initial Posting: September 5, 2024.
- CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Luba Kalaydjieva and Teodora Chamova.
Initial Posting: March 2, 2010; Last Update: October 13, 2022.
- CTNNB1 Neurodevelopmental Disorder
Stephanie KL Ho, Mandy HY Tsang, Mianne Lee, Shirley SW Cheng, Ho-ming Luk, Ivan FM Lo, and Brian HY Chung.
Initial Posting: May 19, 2022.
- CYLD Cutaneous Syndrome
Anna Dubois and Neil Rajan.
Initial Posting: April 16, 2020.
- Caffey Disease
Andrea Guerin, Lucie Dupuis, and Roberto Mendoza-Londono.
Initial Posting: August 2, 2012; Last Update: May 23, 2024.
- Calpainopathy
Corrado Angelini.
Initial Posting: May 10, 2005; Last Update: December 1, 2022.
- Campomelic Dysplasia
Sheila Unger, Gerd Scherer, and Andrea Superti-Furga.
Initial Posting: July 31, 2008; Last Revision: April 6, 2023.
- Camurati-Engelmann Disease
Stephanie E Wallace and William R Wilcox.
Initial Posting: June 25, 2004; Last Update: August 31, 2023.
- Canavan Disease
Amanda Nagy, Annette E Bley, and Florian Eichler.
Initial Posting: September 16, 1999; Last Update: December 21, 2023.
- Cantú Syndrome
Dorothy K Grange, Colin G Nichols, and Gautam K Singh.
Initial Posting: October 2, 2014; Last Update: October 1, 2020.
- Capillary Malformation-Arteriovenous Malformation Syndrome
Pinar Bayrak-Toydemir and David A Stevenson.
Initial Posting: February 22, 2011; Last Update: September 12, 2019.
- Carbonic Anhydrase VA Deficiency
Clara van Karnebeek and Johannes Häberle.
Initial Posting: April 2, 2015; Last Update: August 26, 2021.
- Cardiofaciocutaneous Syndrome
Katherine A Rauen.
Initial Posting: January 18, 2007; Last Update: February 9, 2023.
- Carney Complex
Constantine A Stratakis.
Initial Posting: February 5, 2003; Last Update: September 21, 2023.
- Carnitine Palmitoyltransferase 1A Deficiency
Michael J Bennett and Avni B Santani.
Initial Posting: July 27, 2005; Last Update: March 17, 2016.
- Carnitine Palmitoyltransferase II Deficiency
Thomas Wieser.
Initial Posting: August 27, 2004; Last Revision: January 3, 2019.
- Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders
Outi Mäkitie and Svetlana Vakkilainen.
Initial Posting: March 15, 2012; Last Update: May 11, 2023.
- Carnitine-Acylcarnitine Translocase Deficiency
J Andres Morales Corado, Chung U Lee, and Gregory M Enns.
Initial Posting: July 21, 2022.
- Catecholaminergic Polymorphic Ventricular Tachycardia
Carlo Napolitano, Andrea Mazzanti, Raffaella Bloise, and Silvia G Priori.
Initial Posting: October 14, 2004; Last Update: June 23, 2022.
- Celiac Disease
Annette K Taylor, Benjamin Lebwohl, Cara L Snyder, and Peter HR Green.
Initial Posting: July 3, 2008; Last Update: January 31, 2019.
- Cerebrotendinous Xanthomatosis
Antonio Federico and Gian Nicola Gallus.
Initial Posting: July 16, 2003; Last Update: March 17, 2022.
- Char Syndrome
Bruce D Gelb.
Initial Posting: August 15, 2003; Last Update: May 21, 2020.
- Charcot-Marie-Tooth Hereditary Neuropathy Overview
Thomas D Bird.
Initial Posting: September 28, 1998; Last Revision: August 1, 2024.
- Chediak-Higashi Syndrome
Camilo Toro, Marie Morimoto, May Christine Malicdan, David R Adams, and Wendy J Introne.
Initial Posting: March 3, 2009; Last Update: December 21, 2023.
- Cherubism
Peter Kannu, Berivan Baskin, and Sarah Bowdin.
Initial Posting: February 26, 2007; Last Update: November 21, 2018.
- Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter
Marjo S van der Knaap, Anne Fogli, Odile Boespflug-Tanguy, Truus EM Abbink, and Raphael Schiffmann.
Initial Posting: February 20, 2003; Last Update: April 4, 2019.
- Chondrodysplasia with Congenital Joint Dislocations, CHST3-Related
Andrea Superti-Furga and Sheila Unger.
Initial Posting: September 1, 2011; Last Update: August 1, 2024.
- Chondrodysplasia Punctata 1, X-Linked
Nancy E Braverman, Michael B Bober, Nicola Brunetti-Pierri, and Sharon F Suchy.
Initial Posting: April 22, 2008; Last Update: October 15, 2020.
- Chondrodysplasia Punctata 2, X-Linked
Smitha Kumble and Ravi Savarirayan.
Initial Posting: May 31, 2011; Last Update: January 9, 2020.
- Choroideremia
Ian M MacDonald, Stacey Hume, Yi Zhai, and Manlong Xu.
Initial Posting: February 21, 2003; Last Update: March 4, 2021.
- Christianson Syndrome
Eric M Morrow and Matthew F Pescosolido.
Initial Posting: January 11, 2018.
- Chronic Granulomatous Disease
Jennifer W Leiding and Steven M Holland.
Initial Posting: August 9, 2012; Last Update: April 21, 2022.
- Chylomicron Retention Disease
John R Burnett, Amanda J Hooper, and Robert A Hegele.
Initial Posting: March 24, 2022.
- Citrin Deficiency
Takeyori Saheki and Yuan-Zong Song.
Initial Posting: September 16, 2005; Last Update: August 10, 2017.
- Citrullinemia Type I
Shane C Quinonez and Kristen N Lee.
Initial Posting: July 7, 2004; Last Update: August 18, 2022.
- Classic Ehlers-Danlos Syndrome
Fransiska Malfait, Sofie Symoens, and Delfien Syx.
Initial Posting: May 29, 2007; Last Update: February 1, 2024.
- Classic Galactosemia and Clinical Variant Galactosemia
Gerard T Berry.
Initial Posting: February 4, 2000; Last Update: March 11, 2021.
- Classic Isovaleric Acidemia
Ulrike Mütze, Anna Reischl-Hajiabadi, and Stefan Kölker.
Initial Posting: March 14, 2024.
- Cleidocranial Dysplasia Spectrum Disorder
Keren Machol, Roberto Mendoza-Londono, and Brendan Lee.
Initial Posting: January 3, 2006; Last Update: April 13, 2023.
- Cockayne Syndrome
Vincent Laugel.
Initial Posting: December 28, 2000; Last Update: August 29, 2024.
- Coffin-Siris Syndrome
Samantha Schrier Vergano, Gijs Santen, Dagmar Wieczorek, Bernd Wollnik, Naomichi Matsumoto, and Matthew A Deardorff.
Initial Posting: April 4, 2013; Last Revision: August 12, 2021.
- Cohen Syndrome
Heng Wang, Marni J Falk, Christine Wensel, and Elias I Traboulsi.
Initial Posting: August 29, 2006; Last Update: July 21, 2016.
- Cold-Induced Sweating Syndrome Including Crisponi Syndrome
Angelika F Hahn and Per Morten Knappskog.
Initial Posting: March 3, 2011; Last Update: August 12, 2021.
- Collagen VI-Related Dystrophies
A Reghan Foley, Payam Mohassel, Sandra Donkervoort, Véronique Bolduc, and Carsten G Bönnemann.
Initial Posting: June 25, 2004; Last Update: March 11, 2021.
- Complete Plasminogen Activator Inhibitor 1 Deficiency
Meadow Heiman, Sweta Gupta, Magdalena Lewandowska, and Amy D Shapiro.
Initial Posting: August 3, 2017; Last Update: February 23, 2023.
- Congenital Central Hypoventilation Syndrome
Debra E Weese-Mayer, Casey M Rand, Ilya Khaytin, Susan M Slattery, Kai Lee Yap, Mary L Marazita, and Elizabeth M Berry-Kravis.
Initial Posting: January 28, 2004; Last Update: January 28, 2021.
- Congenital Contractural Arachnodactyly
Bert Callewaert.
Initial Posting: January 23, 2001; Last Revision: July 14, 2022.
- Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia
Jessica Ordonez and Mustafa Tekin.
Initial Posting: September 20, 2012; Last Update: April 4, 2019.
- Congenital Diaphragmatic Hernia Overview
Mauro Longoni, Barbara R Pober, and Frances A High.
Initial Posting: February 1, 2006; Last Revision: November 5, 2020.
- Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
Susan E Sparks and Donna M Krasnewich.
Initial Posting: August 15, 2005; Last Update: January 12, 2017.
- Congenital Dyserythropoietic Anemia Type I
Hannah Tamary and Orly Dgany.
Initial Posting: April 21, 2009; Last Update: July 29, 2021.
- Congenital Erythropoietic Porphyria
Angelika Erwin, Manisha Balwani, Robert J Desnick; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network.
Initial Posting: September 12, 2013; Last Update: April 15, 2021.
- Congenital Fibrosis of the Extraocular Muscles Overview
Mary C Whitman, Julie A Jurgens, David G Hunter, and Elizabeth C Engle.
Initial Posting: April 27, 2004; Last Update: August 12, 2021.
- Congenital Insensitivity to Pain Overview
Katherine Rose Schon, Alasdair Patrick John Parker, and Christopher Geoffrey Woods.
Initial Posting: February 8, 2018; Last Revision: June 11, 2020.
- Congenital Mirror Movements
Aurélie Méneret, Oriane Trouillard, Margaux Dunoyer, Christel Depienne, and Emmanuel Roze.
Initial Posting: March 12, 2015; Last Update: September 24, 2020.
- Congenital Myasthenic Syndromes Overview
Angela Abicht, Juliane S Müller, and Hanns Lochmüller.
Initial Posting: May 9, 2003; Last Update: December 23, 2021.
- Congenital NAD Deficiency Disorder
Paul Mark and Sally Dunwoodie.
Initial Posting: July 27, 2023.
- Congenital Stromal Corneal Dystrophy
Eyvind Rødahl, Per M Knappskog, Cecilie Bredrup, and Helge Boman.
Initial Posting: November 25, 2008; Last Update: November 29, 2018.
- Cornelia de Lange Syndrome
Matthew A Deardorff, Sarah E Noon, and Ian D Krantz.
Initial Posting: September 16, 2005; Last Update: October 15, 2020.
- Costeff Syndrome
Yair Anikster.
Initial Posting: July 28, 2006; Last Update: April 30, 2020.
- Cranioectodermal Dysplasia
Weizhen Tan, Angela Lin, and Kim Keppler-Noreuil.
Initial Posting: September 12, 2013; Last Revision: December 15, 2022.
- Craniometaphyseal Dysplasia, Autosomal Dominant
Ernst Reichenberger and I-Ping Chen.
Initial Posting: August 27, 2007; Last Update: June 11, 2020.
- Creatine Deficiency Disorders
Saadet Mercimek-Andrews and Gajja S Salomons.
Initial Posting: January 15, 2009; Last Update: February 10, 2022.
- Cystic Fibrosis
Adrienne Savant, Benjamin Lyman, Christine Bojanowski, and Jariya Upadia.
Initial Posting: March 26, 2001; Last Revision: August 8, 2024.
- Cystinosis
Galina Nesterova and William A Gahl.
Initial Posting: March 22, 2001; Last Revision: December 7, 2017.
- Cytochrome P450 Oxidoreductase Deficiency
Jan Idkowiak, Deborah Cragun, Robert J Hopkin, and Wiebke Arlt.
Initial Posting: September 8, 2005; Last Update: August 3, 2017.
D
- DCTN1-Related Neurodegeneration
Jaroslaw Dulski, Takuya Konno, and Zbigniew Wszolek.
Initial Posting: September 30, 2010; Last Update: August 5, 2021.
- DCX-Related Disorders
Ute Hehr, Gökhan Uyanik, Ludwig Aigner, Sebastien Couillard-Despres, and Jürgen Winkler.
Initial Posting: October 19, 2007; Last Update: February 7, 2019.
- DDX3X-Related Neurodevelopmental Disorder
Bethany Johnson-Kerner, Lot Snijders Blok, Lindsey Suit, Julian Thomas, Tjitske Kleefstra, and Elliott H Sherr.
Initial Posting: August 27, 2020.
- DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia
Jane E Churpek and Kelcy Smith-Simmer.
Initial Posting: October 28, 2021.
- DEPDC5-Related Epilepsy
Stéphanie Baulac and Sara Baldassari.
Initial Posting: September 29, 2016; Last Update: March 9, 2023.
- DFNA2 Nonsyndromic Hearing Loss
Richard JH Smith and Michael Hildebrand.
Initial Posting: April 4, 2008; Last Update: May 10, 2018.
- DICER1 Tumor Predisposition
Kris Ann P Schultz, Douglas R Stewart, Junne Kamihara, Andrew J Bauer, Melissa A Merideth, Pamela Stratton, Laryssa A Huryn, Anne K Harris, Leslie Doros, Amanda Field, Ann G Carr, Louis P Dehner, Yoav Messinger, and D Ashley Hill.
Initial Posting: April 24, 2014; Last Update: April 30, 2020.
- DLG4-Related Synaptopathy
Zeynep Tümer, Thomas J Dye, Carlos Prada, Alexandre M White-Brown, Alex MacKenzie, and Amanda M Levy.
Initial Posting: June 22, 2023.
- DNAJC6 Parkinson Disease
Manju A Kurian and Lucia Abela.
Initial Posting: May 13, 2021.
- DNMT1-Related Disorder
Christopher J Klein.
Initial Posting: February 16, 2012; Last Update: January 31, 2019.
- DRPLA
Silvia Prades, PhD, Claudio Melo de Gusmao, MD, Silvia Grimaldi, MD, Yael Shiloh-Malawsky, MD, Thomas Felton, MS, CGC, and Henry Houlden, MD, PhD.
Initial Posting: August 6, 1999; Last Update: September 21, 2023.
- DYNC1H1-Related Disorders
Birk Möller, Antonietta Coppola, Heinz Jungbluth, and Hormos Salimi Dafsari.
Initial Posting: March 21, 2024.
- DYRK1A Syndrome
Bregje WM van Bon, Bradley P Coe, Bert BA de Vries, and Evan E Eichler.
Initial Posting: December 17, 2015; Last Update: March 18, 2021.
- DYT-GNAL
Angela B Deutschländer and Zbigniew K Wszolek.
Initial Posting: January 3, 2019.
- DYT1 Early-Onset Isolated Dystonia
Laurie Ozelius and Naomi Lubarr.
Initial Posting: April 14, 1999; Last Update: November 17, 2016.
- Danon Disease
Matthew RG Taylor and Eric D Adler.
Initial Posting: March 5, 2020; Last Revision: May 23, 2024.
- Deafness and Myopia Syndrome
Jessica L Ordonez and Mustafa Tekin.
Initial Posting: January 15, 2015; Last Update: September 14, 2017.
- Deafness-Dystonia-Optic Neuronopathy Syndrome
Lisbeth Tranebjærg.
Initial Posting: February 6, 2003; Last Update: November 21, 2019.
- Dent Disease
John C Lieske, Dawn S Milliner, Lada Beara-Lasic, Peter Harris, Andrea Cogal, and Elizabeth Abrash.
Initial Posting: August 9, 2012; Last Update: December 14, 2017.
- Deoxyguanosine Kinase Deficiency
Ayman W El-Hattab and Fernando Scaglia.
Initial Posting: June 18, 2009; Last Update: February 9, 2023.
- Diabetes Mellitus, 6q24-Related Transient Neonatal
Isabel Karen Temple and Deborah JG Mackay.
Initial Posting: October 10, 2005; Last Update: September 13, 2018.
- Diamond-Blackfan Anemia
Colin Sieff.
Initial Posting: June 25, 2009; Last Revision: March 23, 2023.
- Diastrophic Dysplasia
Sheila Unger and Andrea Superti-Furga.
Initial Posting: November 15, 2004; Last Revision: March 16, 2023.
- Dihydrolipoamide Dehydrogenase Deficiency
Shane C Quinonez and Jess G Thoene.
Initial Posting: July 17, 2014; Last Revision: September 30, 2021.
- Dilated Cardiomyopathy Overview
Ray E Hershberger and Elizabeth Jordan.
Initial Posting: July 27, 2007; Last Revision: April 7, 2022.
- Disorders of GNAS Inactivation
Chad R Haldeman-Englert, Anna CE Hurst, and Michael A Levine.
Initial Posting: October 26, 2017.
- Disorders of Intracellular Cobalamin Metabolism
Jennifer L Sloan, Nuria Carrillo, David Adams, and Charles P Venditti.
Initial Posting: February 25, 2008; Last Revision: December 16, 2021.
- Donnai-Barrow Syndrome
Mauro Longoni, Sibel Kantarci, Dian Donnai, and Barbara R Pober.
Initial Posting: August 28, 2008; Last Update: November 21, 2018.
- Dopamine Beta-Hydroxylase Deficiency
Italo Biaggioni.
Initial Posting: September 4, 2003; Last Update: September 26, 2024.
- Duane Syndrome
Brenda J Barry, Mary C Whitman, David G Hunter, and Elizabeth C Engle.
Initial Posting: May 25, 2007; Last Update: August 29, 2019.
- Duarte Variant Galactosemia
Judith L Fridovich-Keil, Michael J Gambello, Rani H Singh, and J Daniel Sharer.
Initial Posting: December 4, 2014; Last Revision: June 25, 2020.
- Dysferlinopathy
Masashi Aoki and Toshiaki Takahashi.
Initial Posting: February 5, 2004; Last Update: May 27, 2021.
- Dyskeratosis Congenita and Related Telomere Biology Disorders
Sharon A Savage and Marena R Niewisch.
Initial Posting: November 12, 2009; Last Revision: January 19, 2023.
- Dystrophic Epidermolysis Bullosa
Ellen G Pfendner and Anne W Lucky.
Initial Posting: August 21, 2006; Last Update: September 13, 2018.
- Dystrophinopathies
Basil T Darras, David K Urion, and Partha S Ghosh.
Initial Posting: September 5, 2000; Last Revision: January 20, 2022.
E
- EBF3 Neurodevelopmental Disorder
Dhanya Lakshmi Narayanan, Kerstin Kutsche, and Katta M Girisha.
Initial Posting: May 6, 2021.
- EED-Related Overgrowth
Ana Sequerra Amram Cohen and William Thomas Gibson.
Initial Posting: April 11, 2019.
- EFEMP2-Related Cutis Laxa
Bart Loeys, Anne De Paepe, and Zsolt Urban.
Initial Posting: May 12, 2011; Last Revision: June 15, 2023.
- ELANE-Related Neutropenia
David C Dale and Vahagn Makaryan.
Initial Posting: June 17, 2002; Last Update: August 23, 2018.
- ELN-Related Cutis Laxa
Bert L Callewaert and Zsolt Urban.
Initial Posting: September 29, 2022.
- EMC10-Related Neurodevelopmental Disorder
Muhammad Umair and Majid Alfadhel.
Initial Posting: June 15, 2023.
- ENTPD1-Related Neurodevelopmental Disorder
Daniel Calame and Isabella Herman.
Initial Posting: June 1, 2023.
- EPB42-Related Hereditary Spherocytosis
Theodosia A Kalfa and Amber H Begtrup.
Initial Posting: March 13, 2014; Last Update: April 7, 2022.
- EPG5-Related Disorder
Hormos Salimi Dafsari, Darius Ebrahimi-Fakhari, Afshin Saffari, Celine Deneubourg, Manolis Fanto, and Heinz Jungbluth.
Initial Posting: October 13, 2022.
- ETV6 Thrombocytopenia and Predisposition to Leukemia
Christopher C Porter, Jorge Di Paola, and Bojana Pencheva.
Initial Posting: November 19, 2020.
- ESCO2 Spectrum Disorder
Hugo Vega, Miriam Gordillo, and Ethylin Wang Jabs.
Initial Posting: April 18, 2006; Last Update: March 26, 2020.
- EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity
Gandham SriLakshmi Bhavani, Swati Singh, and Katta Mohan Girisha.
Initial Posting: May 25, 2023.
- EXOSC3 Pontocerebellar Hypoplasia
Frank Baas and Tessa van Dijk.
Initial Posting: August 21, 2014; Last Update: September 24, 2020.
- EZH2-Related Overgrowth
Sharon Ocansey and Katrina Tatton-Brown.
Initial Posting: July 18, 2013; Last Update: March 21, 2024.
- El-Hattab-Alkuraya Syndrome
Mohammed Almannai, Dana Marafi, and Ayman W El-Hattab.
Initial Posting: September 29, 2022.
- Ellis-van Creveld Syndrome
Jorge Diogo Da Silva, Nataliya Tkachenko, and Ana Rita Soares.
Initial Posting: October 26, 2023.
- Emanuel Syndrome
Beverly S Emanuel, Elaine H Zackai, and Livija Medne.
Initial Posting: April 20, 2007; Last Update: August 31, 2017.
- Emery-Dreifuss Muscular Dystrophy
Gisèle Bonne, France Leturcq, and Rabah Ben Yaou.
Initial Posting: September 29, 2004; Last Update: August 15, 2019.
- Encephalocraniocutaneous Lipomatosis
Ute Moog and William B Dobyns.
Initial Posting: January 27, 2022.
- Enlarged Parietal Foramina
Lampros A Mavrogiannis and Andrew OM Wilkie.
Initial Posting: March 30, 2004; Last Update: November 27, 2019.
- Epidermolysis Bullosa Simplex
Jodi Y So and Joyce Teng.
Initial Posting: October 7, 1998; Last Update: August 4, 2022.
- Epidermolysis Bullosa with Pyloric Atresia
Anne W Lucky and Emily Gorell.
Initial Posting: February 22, 2008; Last Update: January 26, 2023.
- Epimerase Deficiency Galactosemia
Judith Fridovich-Keil, Lora Bean, Miao He, and Richard Schroer.
Initial Posting: January 25, 2011; Last Update: March 4, 2021.
- Episodic Ataxia Type 1
Sonia M Hasan and Maria Cristina D'Adamo.
Initial Posting: February 9, 2010; Last Revision: November 1, 2018.
- Erythropoietic Protoporphyria, Autosomal Recessive
Manisha Balwani, Joseph Bloomer, Robert Desnick; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network.
Initial Posting: September 27, 2012; Last Update: September 7, 2017.
- Ethylmalonic Encephalopathy
Ivano Di Meo, Costanza Lamperti, and Valeria Tiranti.
Initial Posting: September 21, 2017.
F
- FAM111A-Related Skeletal Dysplasias
Shirley Cheng, Ivan FM Lo, and Ho-Ming Luk.
Initial Posting: April 6, 2023.
- FARS2 Deficiency
Mohammed Almannai, Eissa Faqeih, Ayman W El-Hattab, and Lee-Jun C Wong.
Initial Posting: March 14, 2019.
- FBLN5-Related Cutis Laxa
Lionel Van Maldergem and Bart Loeys.
Initial Posting: March 19, 2009; Last Revision: June 15, 2023.
- FBN1-Related Marfan Syndrome
Harry Dietz.
Initial Posting: April 18, 2001; Last Update: February 17, 2022.
- FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome
Mohammed Almannai, Hongzheng Dai, Ayman W El-Hattab, and Lee-Jun C Wong.
Initial Posting: April 6, 2017.
- FGFR Craniosynostosis Syndromes Overview
Tara Wenger, Danny Miller, and Kelly Evans.
Initial Posting: October 20, 1998; Last Revision: April 30, 2020.
- FGFR1-Related Hartsfield Syndrome
Radhika Dhamija and Dusica Babovic-Vuksanovic.
Initial Posting: March 3, 2016; Last Revision: May 12, 2022.
- FH Tumor Predisposition Syndrome
Junne Kamihara, Kris Ann Schultz, and Huma Q Rana.
Initial Posting: July 31, 2006; Last Revision: August 13, 2020.
- FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome
Cecilia Giunta, Marianne Rohrbach, Christine Fauth, and Matthias Baumann.
Initial Posting: May 23, 2019.
- FLNA Deficiency
Ming Hui Chen and Christopher A Walsh.
Initial Posting: October 8, 2002; Last Update: September 30, 2021.
- FLNB Disorders
Stephen Robertson.
Initial Posting: October 9, 2008; Last Update: February 13, 2020.
- FMR1 Disorders
Jessica Ezzell Hunter, Elizabeth Berry-Kravis, Heather Hipp, and Peter K Todd.
Initial Posting: June 16, 1998; Last Revision: May 16, 2024.
- FOLR1-Related Cerebral Folate Transport Deficiency
I David Goldman.
Initial Posting: January 11, 2024.
- FOXG1 Syndrome
Knut Brockmann and Martin Staudt.
Initial Posting: June 6, 2024.
- FOXP1 Syndrome
Gudrun Rappold, Paige Siper, Ana Kostic, Ruth Braden, Angela Morgan, Saskia Koene, and Alexander Kolevzon.
Initial Posting: September 21, 2023.
- FOXP2-Related Speech and Language Disorder
Angela Morgan, Simon E Fisher, Ingrid Scheffer, and Michael Hildebrand.
Initial Posting: June 23, 2016; Last Update: January 26, 2023.
- FREM1 Autosomal Recessive Disorders
Chumei Li and Anne Slavotinek.
Initial Posting: July 9, 2008; Last Update: May 9, 2019.
- FRMD7-Related Infantile Nystagmus
Mervyn G Thomas, Gail Maconachie, Michael Hisaund, and Irene Gottlob.
Initial Posting: February 12, 2009; Last Update: August 16, 2018.
- Fabry Disease
Atul Mehta and Derralynn A Hughes.
Initial Posting: August 5, 2002; Last Revision: April 11, 2024.
- Facioscapulohumeral Muscular Dystrophy
Matthew K Preston, Rabi Tawil, and Leo H Wang.
Initial Posting: March 8, 1999; Last Update: February 6, 2020.
- Factor V Leiden Thrombophilia
Daniele Pastori, Danilo Menichelli, Emanuele Valeriani, and Pasquale Pignatelli.
Initial Posting: May 14, 1999; Last Update: May 16, 2024.
- Familial Cerebral Cavernous Malformations
Kelly D Flemming, Edward Smith, Douglas Marchuk, and W Brent Derry.
Initial Posting: February 24, 2003; Last Update: July 27, 2023.
- Familial Combined Hypolipidemia
John R Burnett, Amanda J Hooper, and Robert A Hegele.
Initial Posting: July 20, 2023.
- Familial Dysautonomia
Bat-El Bar-Aluma.
Initial Posting: January 21, 2003; Last Update: November 4, 2021.
- Familial Hemiplegic Migraine
Joanna C Jen.
Initial Posting: July 17, 2001; Last Revision: July 4, 2024.
- Familial Hemophagocytic Lymphohistiocytosis
Kejian Zhang, Itziar Astigarraga, Yenan Bryceson, Kai Lehmberg, Rafal Machowicz, Rebecca Marsh, Elena Sieni, Zhao Wang, and Kim E Nichols.
Initial Posting: March 22, 2006; Last Revision: June 6, 2024.
- Familial Hypercholesterolemia
Hannah E Ison, Shoa L Clarke, and Joshua W Knowles.
Initial Posting: January 2, 2014; Last Update: July 7, 2022.
- Familial Hyperinsulinism
David Gillis.
Initial Posting: August 19, 2003; Last Update: March 21, 2019.
- Familial Lipoprotein Lipase Deficiency
John R Burnett, Amanda J Hooper, and Robert A Hegele.
Initial Posting: October 12, 1999; Last Update: June 22, 2017.
- Familial Mediterranean Fever
Mordechai Shohat.
Initial Posting: August 8, 2000; Last Update: December 15, 2016.
- Familial Paroxysmal Nonkinesigenic Dyskinesia
Roberto Erro.
Initial Posting: June 24, 2005; Last Update: April 4, 2019.
- Familial Porphyria Cutanea Tarda
Sean Rudnick, John Phillips, Herbert Bonkovsky; Porphyrias Consortium of the Rare Diseases Clinical Research Network.
Initial Posting: June 6, 2013; Last Update: June 9, 2022.
- Fanconi Anemia
Parinda A Mehta and Christen Ebens.
Initial Posting: February 14, 2002; Last Update: June 3, 2021.
- Fatty Acid Hydroxylase-Associated Neurodegeneration
Allison Gregory, Sunita Venkateswaran, and Susan J Hayflick.
Initial Posting: June 28, 2011; Last Update: September 27, 2018.
- Feingold Syndrome 1
Carlo LM Marcelis and Arjan PM de Brouwer.
Initial Posting: June 30, 2009; Last Update: April 4, 2019.
- Fibrous Dysplasia / McCune-Albright Syndrome
Vivian Szymczuk, Pablo Florenzano, Luis F de Castro, Michael T Collins, and Alison M Boyce.
Initial Posting: February 26, 2015; Last Update: February 8, 2024.
- Fibrodysplasia Ossificans Progressiva
Lauren S Akesson and Ravi Savarirayan.
Initial Posting: June 11, 2020; Last Revision: May 23, 2024.
- Floating-Harbor Syndrome
Malgorzata JM Nowaczyk, Sarah M Nikkel, and Susan M White.
Initial Posting: November 29, 2012; Last Revision: October 20, 2022.
- Free Sialic Acid Storage Disorders
David Adams and Melissa Wasserstein.
Initial Posting: June 13, 2003; Last Update: January 23, 2020.
- Friedreich Ataxia
Sanjay I Bidichandani and Martin B Delatycki.
Initial Posting: December 18, 1998; Last Update: June 1, 2017.
- Fructose-1,6-Bisphosphatase Deficiency
Sunita Bijarnia-Mahay, Sameer Bhatia, and Veronica Arora.
Initial Posting: December 5, 2019.
- Fryns Syndrome
Anne Slavotinek.
Initial Posting: April 18, 2007; Last Update: September 17, 2020.
- Fukuyama Congenital Muscular Dystrophy
Kayoko Saito.
Initial Posting: January 26, 2006; Last Update: July 3, 2019.
- Fumarate Hydratase Deficiency
David Coman, Kamil R Kranc, and John Christodoulou.
Initial Posting: July 5, 2006; Last Update: April 23, 2020.
G
- G6PC3 Deficiency
Siddharth Banka.
Initial Posting: April 16, 2015.
- GAN-Related Neurodegeneration
Puneet Opal.
Initial Posting: January 9, 2003; Last Update: October 14, 2021.
- GAA-FGF14-Related Ataxia
David Pellerin, Matt Danzi, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Stephan Zuchner, and Bernard Brais.
Initial Posting: January 25, 2024.
- GARS1-Associated Axonal Neuropathy
Rebecca Markovitz, Rajarshi Ghosh, Timothy Lotze, and Lorraine Potocki.
Initial Posting: November 8, 2006; Last Update: July 22, 2021.
- GATA1-Related Cytopenia
Kaoru Takasaki, Melissa A Kacena, Wendy H Raskind, Mitchell J Weiss, and Stella T Chou.
Initial Posting: November 22, 2006; Last Update: February 16, 2023.
- GBE1 Adult Polyglucosan Body Disease
H Orhan Akman, Alexander Lossos, and Or Kakhlon.
Initial Posting: April 2, 2009; Last Update: September 17, 2020.
- GDAP1-Related Hereditary Motor and Sensory Neuropathy
Thomas D Bird.
Initial Posting: May 11, 2004; Last Update: March 30, 2017.
- GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes
Charles K Abrams.
Initial Posting: June 18, 1998; Last Revision: April 25, 2024.
- GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss
Richard JH Smith, Hela Azaiez, and Kevin Booth.
Initial Posting: September 28, 1998; Last Update: July 20, 2023.
- GLB1-Related Disorders
Debra S Regier, Cynthia J Tifft, and Caroline E Rothermel.
Initial Posting: October 17, 2013; Last Update: April 22, 2021.
- GLI3-Related Pallister-Hall Syndrome
Leslie G Biesecker.
Initial Posting: May 25, 2000; Last Revision: February 22, 2024.
- GLYT1 Encephalopathy
Alina Kurolap, Tova Hershkovitz, and Hagit N Baris.
Initial Posting: November 30, 2017.
- GM2 Activator Deficiency
Changrui Xiao, Camilo Toro, and Cyndi Tifft.
Initial Posting: August 25, 2022.
- GM3 Synthase Deficiency
Vincent Cruz, Baozhong Xin, and Heng Wang.
Initial Posting: July 20, 2023.
- GNAI1-Related Neurodevelopmental Disorder
Emily Bonkowski, Esmat Fathi, and Heather C Mefford.
Initial Posting: August 1, 2024.
- GNAO1-Related Disorder
Lauren Briere, Moritz Thiel, David A Sweetser, Anne Koy, and Erika Axeen.
Initial Posting: November 9, 2023.
- GNB1 Encephalopathy
Anya Revah-Politi, Tristan T Sands, Sophie Colombo, David B Goldstein, and Kwame Anyane-Yeboa.
Initial Posting: March 5, 2020; Last Revision: April 15, 2021.
- GNB5-Related Neurodevelopmental Disorder
Gemma Poke, Lynette Grant Sadleir, Giuseppe Merla, Guillem de Valles-Ibáñez, and Jonathan Robert Skinner.
Initial Posting: August 26, 2021; Last Revision: September 9, 2021.
- GNE Myopathy
Nuria Carrillo, May Christine Malicdan, and Marjan Huizing.
Initial Posting: March 26, 2004; Last Update: April 9, 2020.
- GNPTAB-Related Disorders
Jules G Leroy, Sara S Cathey, and Michael J Friez.
Initial Posting: August 26, 2008; Last Update: August 29, 2019.
- GRIA2-Related Neurodevelopmental Disorder
Stephanie Efthymiou, Elisa Rumbos Siurana, Vincenzo Salpietro, Allan Bayat, and Henry Houlden.
Initial Posting: January 11, 2024.
- GRIN1-Related Neurodevelopmental Disorder
Konrad Platzer and Johannes R Lemke.
Initial Posting: June 20, 2019; Last Revision: April 1, 2021.
- GRIN2A-Related Disorders
Vincent Strehlow, Kenneth A Myers, Angela T Morgan, Ingrid E Scheffer, and Johannes R. Lemke.
Initial Posting: September 29, 2016; Last Update: July 4, 2024.
- GRIN2B-Related Neurodevelopmental Disorder
Konrad Platzer and Johannes R Lemke.
Initial Posting: May 31, 2018; Last Revision: March 25, 2021.
- GRIN2D-Related Developmental and Epileptic Encephalopathy
Konrad Platzer, Ilona Krey, and Johannes R Lemke.
Initial Posting: July 28, 2022.
- GRN Frontotemporal Dementia
Ging-Yuek Robin Hsiung and Howard H Feldman.
Initial Posting: September 7, 2007; Last Update: February 6, 2020.
- GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
Yoshiaki Furukawa.
Initial Posting: February 21, 2002; Last Update: January 24, 2019.
- Gabriele-de Vries Syndrome
Maria J Nabais Sá, Michele Gabriele, Giuseppe Testa, and Bert BA de Vries.
Initial Posting: May 30, 2019.
- Gaucher Disease
Derralynn A Hughes and Gregory M Pastores.
Initial Posting: July 27, 2000; Last Update: December 7, 2023.
- Geleophysic Dysplasia
Pauline Marzin and Valérie Cormier-Daire.
Initial Posting: September 22, 2009; Last Update: March 28, 2024.
- Generalized Arterial Calcification of Infancy
Shira G Ziegler, William A Gahl, and Carlos R Ferreira.
Initial Posting: November 13, 2014; Last Update: December 30, 2020.
- Genetic Atypical Hemolytic-Uremic Syndrome
Marina Noris, Elena Bresin, Caterina Mele, and Giuseppe Remuzzi.
Initial Posting: November 16, 2007; Last Update: September 23, 2021.
- Genetic Hearing Loss Overview
A Eliot Shearer, Michael S Hildebrand, Amanda M Schaefer, and Richard JH Smith.
Initial Posting: February 14, 1999; Last Revision: September 28, 2023.
- Genetic Prion Disease
Inga Zerr and Matthias Schmitz.
Initial Posting: March 27, 2003; Last Update: January 7, 2021.
- Genetic Steroid-Resistant Nephrotic Syndrome Overview
Beata S Lipska-Ziętkiewicz.
Initial Posting: August 26, 2021.
- Glucose Transporter Type 1 Deficiency Syndrome
Dong Wang, Juan M Pascual, and Darryl De Vivo.
Initial Posting: July 30, 2002; Last Update: March 1, 2018.
- Glutaric Acidemia Type 1
Austin Larson and Steve Goodman.
Initial Posting: September 19, 2019.
- Glycogen Storage Disease Type I
Deeksha S Bali, Areeg El-Gharbawy, Stephanie Austin, Surekha Pendyal, and Priya S Kishnani.
Initial Posting: April 19, 2006; Last Update: October 14, 2021.
- Glycogen Storage Disease Type III
Andrea B Schreuder, Alessandro Rossi, Sarah C Grünert, and Terry GJ Derks.
Initial Posting: March 9, 2010; Last Update: January 6, 2022.
- Glycogen Storage Disease Type IV
Pilar L Magoulas and Ayman W El-Hattab.
Initial Posting: January 3, 2013; Last Update: August 1, 2019.
- Glycogen Storage Disease Type V
Miguel A Martín, Alejandro Lucia, Joaquin Arenas, and Antonio L Andreu.
Initial Posting: April 19, 2006; Last Update: June 20, 2019.
- Glycogen Storage Disease Type VI
Emma Labrador and David A Weinstein.
Initial Posting: April 23, 2009; Last Update: November 27, 2019.
- Greig Cephalopolysyndactyly Syndrome
Leslie G Biesecker and Jennifer J Johnston.
Initial Posting: July 9, 2001; Last Revision: February 15, 2024.
H
- HEXA Disorders
Camilo Toro, Leila Shirvan, and Cynthia Tifft.
Initial Posting: March 11, 1999; Last Update: October 1, 2020.
- HFE-Related Hemochromatosis
James C Barton and Charles J Parker.
Initial Posting: April 3, 2000; Last Update: April 11, 2024.
- HIST1H1E Syndrome
Deepika Burkardt and Katrina Tatton-Brown.
Initial Posting: December 3, 2020; Last Revision: December 15, 2022.
- HNRNPH2-Related Neurodevelopmental Disorder
Sehajvir Madhok and Jennifer Bain.
Initial Posting: September 15, 2022.
- HNRNPU-Related Neurodevelopmental Disorder
Meena Balasubramanian.
Initial Posting: March 10, 2022.
- HPRT1 Disorders
Hyder A Jinnah.
Initial Posting: September 25, 2000; Last Update: August 6, 2020.
- HRAS-Related Costello Syndrome
Karen W Gripp and K Nicole Weaver.
Initial Posting: August 29, 2006; Last Update: December 21, 2023.
- HTRA1 Disorder
Osamu Onodera, Hiroaki Nozaki, and Toshio Fukutake.
Initial Posting: April 27, 2010; Last Update: November 7, 2019.
- HYAL2 Deficiency
James Fasham, Olivia K Wenger, Andrew H Crosby, and Emma L Baple.
Initial Posting: September 21, 2023.
- Hand-Foot-Genital Syndrome
Jeffrey W Innis.
Initial Posting: July 11, 2006; Last Update: August 8, 2019.
- Hemophilia A
Barbara A Konkle and Shelley Nakaya Fletcher.
Initial Posting: September 21, 2000; Last Revision: July 27, 2023.
- Hemophilia B
Barbara A Konkle and Shelley Nakaya Fletcher.
Initial Posting: October 2, 2000; Last Revision: June 6, 2024.
- Hepatic Veno-Occlusive Disease with Immunodeficiency
Tony Roscioli, John B Ziegler, Michael Buckley, and Melanie Wong.
Initial Posting: February 21, 2007; Last Update: January 12, 2017.
- Hepatoerythropoietic Porphyria
Sean Rudnick, John Phillips, Herbert Bonkovsky; Porphyrias Consortium of the Rare Diseases Clinical Research Network.
Initial Posting: October 31, 2013; Last Update: December 22, 2022.
- Hereditary Ataxia Overview
Susan Perlman.
Initial Posting: October 28, 1998; Last Revision: September 12, 2024.
- Hereditary Coproporphyria
Bruce Wang and D Montgomery Bissell.
Initial Posting: December 13, 2012; Last Revision: May 19, 2022.
- Diffuse Gastric and Lobular Breast Cancer Syndrome
Rita Barbosa-Matos and Lilian Córdova.
Initial Posting: November 4, 2002; Last Update: October 10, 2024.
- Hereditary Distal Renal Tubular Acidosis
R Todd Alexander, Linda Law, Helena Gil-Peña, Larry A Greenbaum, and Fernando Santos.
Initial Posting: October 10, 2019.
- Hereditary Dystonia Overview
Christine Klein, Katja Lohmann, Connie Marras, and Alexander Münchau.
Initial Posting: October 28, 2003; Last Update: June 22, 2017.
- Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
Sandra Mercier, Sébastien Küry, and Sébastien Barbarot.
Initial Posting: October 13, 2016; Last Revision: September 9, 2021.
- Hereditary Folate Malabsorption
I David Goldman.
Initial Posting: June 17, 2008; Last Revision: February 15, 2024.
- Hereditary Fructose Intolerance
Sommer Gaughan, Lachlan Ayres, and Peter R Baker, II.
Initial Posting: December 17, 2015; Last Update: February 18, 2021.
- Hereditary Hemorrhagic Telangiectasia
Jamie McDonald and David A Stevenson.
Initial Posting: June 26, 2000; Last Update: November 24, 2021.
- Hereditary Hyperekplexia Overview
Bettina Balint and Rhys Thomas.
Initial Posting: July 31, 2007; Last Update: December 19, 2019.
- Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
Claudie Gauvreau, Jean-Denis Brisson, and Nicolas Dupré.
Initial Posting: February 2, 2006; Last Update: September 17, 2020.
- Hereditary Multiple Osteochondromas
Wim Wuyts, Gregory A Schmale, Howard A Chansky, and Wendy H Raskind.
Initial Posting: August 3, 2000; Last Update: August 6, 2020.
- Hereditary Myopathy with Early Respiratory Failure
Gerald Pfeffer and Patrick F Chinnery.
Initial Posting: February 27, 2014; Last Revision: April 14, 2022.
- Hereditary Nephrogenic Diabetes Insipidus
Nine Knoers and Henny Lemmink.
Initial Posting: February 12, 2000; Last Update: February 27, 2020.
- Hereditary Neuropathy with Liability to Pressure Palsies
Nicolas Chrestian.
Initial Posting: September 28, 1998; Last Update: August 27, 2020.
- Hereditary Paraganglioma-Pheochromocytoma Syndromes
Tobias Else, Samantha Greenberg, and Lauren Fishbein.
Initial Posting: May 21, 2008; Last Update: September 21, 2023.
- Hereditary Sensory and Autonomic Neuropathy Type II
Ingo Kurth.
Initial Posting: November 23, 2010; Last Update: April 1, 2021.
- Hereditary Spastic Paraplegia Overview
Peter Hedera.
Initial Posting: August 15, 2000; Last Revision: February 11, 2021.
- Hereditary Transthyretin Amyloidosis
Yoshiki Sekijima and Katsuya Nakamura.
Initial Posting: November 5, 2001; Last Update: May 30, 2024.
- Heritable Pulmonary Arterial Hypertension Overview
Eric D Austin, John A Phillips, III, and James E Loyd.
Initial Posting: July 18, 2002; Last Update: December 23, 2020.
- Heritable Thoracic Aortic Disease Overview
Dianna M Milewicz and Alana C Cecchi.
Initial Posting: February 13, 2003; Last Update: May 4, 2023.
- Hermansky-Pudlak Syndrome
Wendy J Introne, Marjan Huizing, May Christine V Malicdan, Kevin J O'Brien, and William A Gahl.
Initial Posting: July 24, 2000; Last Revision: May 25, 2023.
- Hidrotic Ectodermal Dysplasia 2
Jemima Mellerio and Danielle Greenblatt.
Initial Posting: April 25, 2005; Last Update: October 15, 2020.
- Holoprosencephaly Overview
Cedrik Tekendo-Ngongang, Maximilian Muenke, and Paul Kruszka.
Initial Posting: December 27, 2000; Last Update: March 5, 2020.
- Holt-Oram Syndrome
Deborah A McDermott, Jamie C Fong, and Craig T Basson.
Initial Posting: July 20, 2004; Last Update: May 23, 2019.
- Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
Stephanie J Sacharow, Jonathan D Picker, and Harvey L Levy.
Initial Posting: January 15, 2004; Last Update: May 18, 2017.
- Huntington Disease
Nicholas S Caron, Galen EB Wright, and Michael R Hayden.
Initial Posting: October 23, 1998; Last Update: June 11, 2020.
- Huntington Disease-Like 2
David G Anderson, Amanda Krause, and Russell L Margolis.
Initial Posting: January 30, 2004; Last Update: June 27, 2019.
- Huppke-Brendel Syndrome
Parayil Sankaran Bindu, Shwetha Chiplunkar, VP Vandana, Madhu Nagappa, Periyasamy Govindaraj, and Arun Taly.
Initial Posting: June 13, 2019.
- Hutchinson-Gilford Progeria Syndrome
Leslie B Gordon, W Ted Brown, and Francis S Collins.
Initial Posting: December 12, 2003; Last Revision: October 19, 2023.
- Hyaline Fibromatosis Syndrome
Joseph TC Shieh, H Eugene Hoyme, and Laura T Arbour.
Initial Posting: February 27, 2008; Last Revision: May 11, 2023.
- Hyperkalemic Periodic Paralysis
Frank Weber.
Initial Posting: July 18, 2003; Last Update: July 1, 2021.
- Hypermanganesemia with Dystonia 1
Karin Tuschl, Peter T Clayton, Sidney M Gospe, Jr, and Philippa B Mills.
Initial Posting: August 30, 2012; Last Update: December 23, 2021.
- Hypermobile Ehlers-Danlos Syndrome
Alan Hakim.
Initial Posting: October 22, 2004; Last Update: February 22, 2024.
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Jose Camacho and Natalia Rioseco-Camacho.
Initial Posting: May 31, 2012; Last Update: February 13, 2020.
- Hyperphosphatemic Familial Tumoral Calcinosis
Mary Scott Ramnitz, Rachel I Gafni, and Michael T Collins.
Initial Posting: February 1, 2018.
- Hypertrophic Cardiomyopathy Overview
Allison L Cirino and Carolyn Ho.
Initial Posting: August 5, 2008; Last Revision: July 8, 2021.
- Hypochondroplasia
Michael B Bober, Gary A Bellus, Sarah M Nikkel, and George E Tiller.
Initial Posting: July 15, 1999; Last Update: May 7, 2020.
- Hypohidrotic Ectodermal Dysplasia
J Timothy Wright, Dorothy K Grange, and Mary Fete.
Initial Posting: April 28, 2003; Last Update: October 27, 2022.
- Hypokalemic Periodic Paralysis
Frank Weber and Frank Lehmann-Horn.
Initial Posting: April 30, 2002; Last Update: July 26, 2018.
- Hypomyelination and Congenital Cataract
Nicole I Wolf, Roberta Biancheri, Federico Zara, Claudio Bruno, Elisabetta Gazzerro, Andrea Rossi, Marjo S van der Knaap, and Carlo Minetti.
Initial Posting: October 14, 2008; Last Update: January 14, 2021.
- Hypophosphatasia
Mark E Nunes.
Initial Posting: November 20, 2007; Last Revision: March 30, 2023.
I
- IMAGe Syndrome
Samantha A Schrier Vergano and Matthew A Deardorff.
Initial Posting: March 13, 2014; Last Update: August 5, 2021.
- INSR-Related Severe Insulin Resistance Syndrome
Aviv Mesika, Aharon Klar, and Tzipora C Falik Zaccai.
Initial Posting: January 25, 2018; Last Update: April 25, 2024.
- IPEX Syndrome
Queenie K-G Tan, Raymond J Louie, and John W Sleasman.
Initial Posting: October 19, 2004; Last Update: February 1, 2024.
- IRF6-Related Disorders
Brian C Schutte, Howard M Saal, Steven Goudy, and Elizabeth J Leslie.
Initial Posting: October 30, 2003; Last Update: March 4, 2021.
- ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome
Anju Shukla, Dhanya Lakshmi Narayanan, Parneet Kaur, and Katta Mohan Girisha.
Initial Posting: October 3, 2019.
- ISCA2-Related Mitochondrial Disorder
Zuhair N Al-Hassnan and Namik Kaya.
Initial Posting: February 22, 2018.
- Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia
Virginia Kimonis.
Initial Posting: May 25, 2007; Last Update: September 12, 2019.
- Incontinentia Pigmenti
Angela E Scheuerle and Matilde Valeria Ursini.
Initial Posting: June 8, 1999; Last Update: December 21, 2017.
- Isolated and Classic Cutis Marmorata Telangiectatica Congenita
Joan Tamburro, Elias I Traboulsi, and Millan S Patel.
Initial Posting: June 9, 2022.
- Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
Ravikumar Balasubramanian and William F Crowley, Jr.
Initial Posting: May 23, 2007; Last Revision: May 12, 2022.
- Isolated Methylmalonic Acidemia
Irini Manoli, Jennifer L Sloan, and Charles P Venditti.
Initial Posting: August 16, 2005; Last Update: September 8, 2022.
- Isolated Sulfite Oxidase Deficiency
Parayil Sankaran Bindu, Madhu Nagappa, Rose Dawn Bharath, and Arun B Taly.
Initial Posting: September 21, 2017.
J
- Jervell and Lange-Nielsen Syndrome
Lisbeth Tranebjærg, Ricardo A Samson, and Glenn Edward Green.
Initial Posting: July 29, 2002; Last Update: August 17, 2017.
- Joubert Syndrome
Melissa Parisi and Ian Glass.
Initial Posting: July 9, 2003; Last Update: June 29, 2017.
- Junctional Epidermolysis Bullosa
Ellen G Pfendner and Anne W Lucky.
Initial Posting: February 22, 2008; Last Update: December 20, 2018.
- Juvenile Hemochromatosis
Alberto Piperno, Francesca Bertola, and Angela Bentivegna.
Initial Posting: February 17, 2005; Last Update: January 9, 2020.
- Juvenile Polyposis Syndrome
Joy Larsen Haidle, Suzanne P MacFarland, and James R Howe.
Initial Posting: May 13, 2003; Last Update: February 3, 2022.
K
- KAT6B Disorders
Gabrielle Lemire, Philippe M Campeau, and Brendan H Lee.
Initial Posting: December 13, 2012; Last Update: January 2, 2020.
- KBG Syndrome
Dayna Morel Swols and Mustafa Tekin.
Initial Posting: March 22, 2018.
- KCNK9 Imprinting Syndrome
Neda Zadeh and John M Graham, Jr.
Initial Posting: March 23, 2017.
- KCNQ2-Related Disorders
Francesco Miceli, Maria Virginia Soldovieri, Sarah Weckhuysen, Edward Cooper, and Maurizio Taglialatela.
Initial Posting: April 27, 2010; Last Update: May 19, 2022.
- KCNQ3-Related Disorders
Francesco Miceli, Maria Virginia Soldovieri, Sarah Weckhuysen, Edward C Cooper, and Maurizio Taglialatela.
Initial Posting: May 22, 2014; Last Update: September 28, 2023.
- KCNT1-Related Epilepsy
Tracy Gertler, David Bearden, Arin Bhattacharjee, and Gemma Carvill.
Initial Posting: September 20, 2018.
- KMT2B-Related Dystonia
Lucia Abela and Manju Ann Kurian.
Initial Posting: April 26, 2018; Last Revision: September 29, 2022.
- KMT2E-Related Neurodevelopmental Disorder
Lynn Pais, Lance Rodan, and Anne O'Donnell-Luria.
Initial Posting: April 18, 2024.
- KPTN-Related Disorder
Lettie E Rawlins, Peter B Crino, Philip H Iffland, Andrew H Crosby, and Emma L Baple.
Initial Posting: August 1, 2024.
- Kabuki Syndrome
Margaret P Adam, Louanne Hudgins, and Mark Hannibal.
Initial Posting: September 1, 2011; Last Revision: April 25, 2024.
- Kaufman Oculocerebrofacial Syndrome
Dana Brabbing-Goldstein and Lina Basel-Salmon.
Initial Posting: October 20, 2016; Last Update: July 28, 2022.
- Kindler Syndrome
Leila Youssefian, Hassan Vahidnezhad, and Jouni Uitto.
Initial Posting: March 3, 2016; Last Update: January 6, 2022.
- Kleefstra Syndrome
Tjitske Kleefstra and Nicole de Leeuw.
Initial Posting: October 5, 2010; Last Revision: January 26, 2023.
- Koolen-de Vries Syndrome
David A Koolen, Angela Morgan, and Bert BA de Vries.
Initial Posting: January 26, 2010; Last Update: February 2, 2023.
- Krabbe Disease
Joseph J Orsini, Maria L Escolar, Melissa P Wasserstein, and Michele Caggana.
Initial Posting: June 19, 2000; Last Update: October 11, 2018.
L
- L1 Syndrome
Connie Stumpel and Yvonne J Vos.
Initial Posting: April 28, 2004; Last Update: January 7, 2021.
- LAMA2 Muscular Dystrophy
Jorge Oliveira, João Parente Freixo, Manuela Santos, and Teresa Coelho.
Initial Posting: June 7, 2012; Last Update: September 17, 2020.
- LMNA-Related Dilated Cardiomyopathy
Ray E Hershberger and Elizabeth Jordan.
Initial Posting: June 12, 2008; Last Update: March 17, 2022.
- LMNB1-Related Autosomal Dominant Leukodystrophy
Raili Raininko, Michael Gosky, and Quasar S Padiath.
Initial Posting: January 7, 2016; Last Update: July 15, 2021.
- LPIN2-Related Majeed Syndrome
Dhanya Lakshmi Narayanan, Kishore Sai Gogineni, and Vaishnavi Ashok Badiger.
Initial Posting: March 2, 2023.
- LRRK2 Parkinson Disease
Rachel Saunders-Pullman, Deborah Raymond, and Sonya Elango.
Initial Posting: November 2, 2006; Last Revision: July 6, 2023.
- LTBP4-Related Cutis Laxa
Bert L Callewaert and Zsolt Urban.
Initial Posting: February 11, 2016; Last Revision: February 23, 2023.
- LZTR1- and SMARCB1-Related Schwannomatosis
Radhika Dhamija, Scott Plotkin, Alicia Gomes, and Dusica Babovic-Vuksanovic.
Initial Posting: March 8, 2018; Last Revision: April 25, 2024.
- Laing Distal Myopathy
Phillipa Lamont and Nigel G Laing.
Initial Posting: October 17, 2006; Last Update: February 4, 2021.
- Lathosterolosis
Pankaj Prasun and Jaya Ganesh.
Initial Posting: December 7, 2023.
- Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
Neruban Kumaran, Mark E Pennesi, Paul Yang, Karmen M Trzupek, Catherine Schlechter, Anthony T Moore, Richard G Weleber, and Michel Michaelides.
Initial Posting: October 4, 2018; Last Revision: March 23, 2023.
- Leber Hereditary Optic Neuropathy
Patrick Yu-Wai-Man and Patrick F Chinnery.
Initial Posting: October 26, 2000; Last Update: March 11, 2021.
- Legius Syndrome
Eric Legius and David Stevenson.
Initial Posting: October 14, 2010; Last Update: August 6, 2020.
- Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
Marc Engelen, Truus EM Abbink, Gajja S Salomons, and Marjo S van der Knaap.
Initial Posting: May 25, 2010; Last Update: February 18, 2021.
- Li-Fraumeni Syndrome
Katherine Schneider, Kristin Zelley, Kim E Nichols, Alison Schwartz Levine, and Judy Garber.
Initial Posting: January 19, 1999; Last Update: September 5, 2024.
- Lipoid Proteinosis
Hassan Vahidnezhad, Leila Youssefian, and Jouni Uitto.
Initial Posting: January 21, 2016; Last Update: July 22, 2021.
- Loeys-Dietz Syndrome
Bart L Loeys and Harry C Dietz.
Initial Posting: February 28, 2008; Last Update: September 12, 2024.
- Long QT Syndrome Overview
Alexander J Groffen, Hennie Bikker, and Imke Christiaans.
Initial Posting: February 20, 2003; Last Update: March 21, 2024.
- Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency
Pankaj Prasun, Mary Kate LoPiccolo, and Ilona Ginevic.
Initial Posting: September 1, 2022.
- Lowe Syndrome
Richard Alan Lewis, Robert L Nussbaum, and Eileen D Brewer.
Initial Posting: July 24, 2001; Last Update: April 18, 2019.
- Lymphedema-Distichiasis Syndrome
Sahar Mansour, Glen W Brice, Steve Jeffery, and Peter Mortimer.
Initial Posting: March 29, 2005; Last Update: April 4, 2019.
- Lynch Syndrome
Gregory Idos and Laura Valle.
Initial Posting: February 5, 2004; Last Update: February 4, 2021.
- Lysinuric Protein Intolerance
Virginia Nunes and Harri Niinikoski.
Initial Posting: December 21, 2006; Last Update: April 12, 2018.
- Lysosomal Acid Lipase Deficiency
Erin P Hoffman, Marci L Barr, Monica A Giovanni, and Michael F Murray.
Initial Posting: July 30, 2015; Last Revision: September 1, 2016.
M
- MAPT-Related Frontotemporal Dementia
Jonathan Rohrer, Brigid Ryan, and Rebekah Ahmed.
Initial Posting: November 7, 2000; Last Update: August 18, 2022.
- MBD5 Haploinsufficiency
Sureni V Mullegama, Roberto Mendoza-Londono, and Sarah H Elsea.
Initial Posting: October 27, 2016; Last Update: April 28, 2022.
- MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes
Hua Wang, Andrea Wierenga, Sandeep Prabhu, and Klaas Wierenga.
Initial Posting: November 30, 2023.
- MECP2 Disorders
Simranpreet Kaur and John Christodoulou.
Initial Posting: October 3, 2001; Last Update: September 19, 2019.
- MECP2 Duplication Syndrome
Hilde Van Esch.
Initial Posting: January 18, 2008; Last Update: May 21, 2020.
- MECR-Related Neurologic Disorder
Gali Heimer, Allison Gregory, Penelope Hogarth, Susan Hayflick, and Bruria Ben Zeev.
Initial Posting: May 9, 2019.
- MED12-Related Disorders
Michael J Lyons.
Initial Posting: June 23, 2008; Last Update: August 12, 2021.
- MELAS
Ayman W El-Hattab, Mohammed Almannai, and Fernando Scaglia.
Initial Posting: February 27, 2001; Last Update: November 29, 2018.
- MERRF
Frances Velez-Bartolomei, Chung Lee, and Gregory Enns.
Initial Posting: June 3, 2003; Last Update: January 7, 2021.
- MFN2 Hereditary Motor and Sensory Neuropathy
Stephan Züchner.
Initial Posting: February 18, 2005; Last Update: May 14, 2020.
- MID1-Related Opitz G/BBB Syndrome
Germana Meroni.
Initial Posting: December 17, 2004; Last Update: October 19, 2023.
- MIRAGE Syndrome
Kanako Tanase-Nakao, Timothy S Olson, and Satoshi Narumi.
Initial Posting: November 25, 2020.
- MN1 C-Terminal Truncation Syndrome
Christopher CY Mak, Jasmine LF Fung, Mianne Lee, Angela E Lin, Jeanne Amiel, Dan Doherty, Christopher T Gordon, and Brian HY Chung.
Initial Posting: August 13, 2020.
- MPPH Syndrome
Ghayda Mirzaa.
Initial Posting: November 17, 2016; Last Update: July 28, 2022.
- MPV17-Related Mitochondrial DNA Maintenance Defect
Ayman W El-Hattab, Julia Wang, Hongzheng Dai, Mohammed Almannai, Fernando Scaglia, William J Craigen, and Lee-Jun C Wong.
Initial Posting: May 17, 2012; Last Update: May 17, 2018.
- MUTYH Polyposis
Maartje Nielsen, Elena Infante, and Randall Brand.
Initial Posting: October 4, 2012; Last Revision: May 27, 2021.
- MYH9-Related Disease
Anna Savoia and Alessandro Pecci.
Initial Posting: November 20, 2008; Last Update: February 18, 2021.
- MYRF-Related Cardiac Urogenital Syndrome
Julie D Kaplan, Blythe Stewart, Lev Prasov, and Louise C Pyle.
Initial Posting: November 10, 2022.
- Malignant Hyperthermia Susceptibility
Henry Rosenberg, Nyamkhishig Sambuughin, Sheila Riazi, and Robert Dirksen.
Initial Posting: December 19, 2003; Last Update: January 16, 2020.
- Mandibulofacial Dysostosis with Microcephaly
Matthew Lines, Taila Hartley, Stella K MacDonald, and Kym M Boycott.
Initial Posting: July 3, 2014; Last Revision: April 6, 2023.
- Maple Syrup Urine Disease
Kevin A Strauss, Erik G Puffenberger, and Vincent J Carson.
Initial Posting: January 30, 2006; Last Update: April 23, 2020.
- Marinesco-Sjögren Syndrome
Anna-Kaisa Anttonen.
Initial Posting: November 29, 2006; Last Update: October 3, 2024.
- Maternal 15q Duplication Syndrome
Laina Lusk, Vanessa Vogel-Farley, Charlotte DiStefano, and Shafali Jeste.
Initial Posting: June 16, 2016; Last Update: July 15, 2021.
- Maturity-Onset Diabetes of the Young Overview
Rochelle Naylor, Amy Knight Johnson, and Daniela del Gaudio.
Initial Posting: May 24, 2018.
- McKusick-Kaufman Syndrome
Anne M Slavotinek.
Initial Posting: September 10, 2002; Last Update: December 3, 2020.
- McLeod Neuroacanthocytosis Syndrome
Hans H Jung, Adrian Danek, Ruth H Walker, Beat M Frey, and Kevin Peikert.
Initial Posting: December 3, 2004; Last Update: September 16, 2021.
- Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Irene J Chang, Christina Lam, and Jerry Vockley.
Initial Posting: April 20, 2000; Last Update: September 26, 2024.
- Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview
Lusine Ambartsumyan.
Initial Posting: May 9, 2019; Last Update: August 1, 2024.
- Megalencephalic Leukoencephalopathy with Subcortical Cysts
Rogier Min, Truus EM Abbink, and Marjo S van der Knaap.
Initial Posting: August 11, 2003; Last Update: July 27, 2023.
- Microcephalic Osteodysplastic Primordial Dwarfism Type II
Angela Duker, Andrew Jackson, and Michael B Bober.
Initial Posting: December 30, 2021; Last Revision: March 30, 2023.
- Microcephaly-Capillary Malformation Syndrome
Melissa T Carter, Ghayda Mirzaa, Laura M McDonell, and Kym M Boycott.
Initial Posting: December 12, 2013; Last Update: March 18, 2021.
- Microphthalmia with Linear Skin Defects Syndrome
Manuela Morleo and Brunella Franco.
Initial Posting: June 18, 2009; Last Update: July 26, 2018.
- Milroy Disease
Malou Van Zanten, Sahar Mansour, Pia Ostergaard, Peter Mortimer, and Kristiana Gordon.
Initial Posting: April 27, 2006; Last Update: February 18, 2021.
- Mitochondrial DNA-Associated Leigh Syndrome Spectrum
Megan Ball, David R Thorburn, and Shamima Rahman.
Initial Posting: October 30, 2003; Last Update: May 9, 2024.
- Mitochondrial DNA Maintenance Defects Overview
Ayman W El-Hattab, William J Craigen, Lee-Jun C Wong, and Fernando Scaglia.
Initial Posting: March 8, 2018.
- Mitochondrial Membrane Protein-Associated Neurodegeneration
Allison Gregory, Thomas Klopstock, Tomasz Kmiec, Penelope Hogarth, and Susan J Hayflick.
Initial Posting: February 27, 2014; Last Update: March 4, 2021.
- Mitochondrial Neurogastrointestinal Encephalopathy Disease
Michio Hirano.
Initial Posting: April 22, 2005; Last Update: January 14, 2016.
- Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency
Rebecca Ganetzky and Carol Stojinski.
Initial Posting: June 20, 2019.
- Molybdenum Cofactor Deficiency
Albert Misko, Karishma Mahtani, Jessica Abbott, Guenter Schwarz, and Paldeep Atwal.
Initial Posting: December 2, 2021; Last Revision: February 2, 2023.
- Monosomy 7 Predisposition Syndromes Overview
Timothy S Olson, Kathryn E Dickerson, Taizo A Nakano, and Marcin Wlodarski.
Initial Posting: June 10, 2021.
- Mowat-Wilson Syndrome
Margaret P Adam, Jessie Conta, and Lora JH Bean.
Initial Posting: March 28, 2007; Last Update: July 25, 2019.
- Mucolipidosis III Gamma
Annick Raas-Rothschild and Ronen Spiegel.
Initial Posting: January 28, 2010; Last Update: November 21, 2019.
- Mucolipidosis IV
Albert Misko, Yulia Grishchuk, Ehud Goldin, and Raphael Schiffmann.
Initial Posting: January 28, 2005; Last Update: February 11, 2021.
- Mucopolysaccharidosis Type I
Lorne A Clarke.
Initial Posting: October 31, 2002; Last Revision: April 11, 2024.
- Mucopolysaccharidosis Type II
Maurizio Scarpa.
Initial Posting: November 6, 2007; Last Revision: April 11, 2024.
- Mucopolysaccharidosis Type III
Victoria F Wagner and Hope Northrup.
Initial Posting: September 19, 2019.
- Mucopolysaccharidosis Type IVA
Debra S Regier, Matthew Oetgen, and Pranoot Tanpaiboon.
Initial Posting: July 11, 2013; Last Update: June 17, 2021.
- Mucopolysaccharidosis Type VII
Angela Sun and Raymond Wang.
Initial Posting: January 4, 2024.
- Muenke Syndrome
Paul Kruszka, Myron Rolle, Kristopher T Kahle, and Maximilian Muenke.
Initial Posting: May 10, 2006; Last Update: March 30, 2023.
- Multicentric Osteolysis Nodulosis and Arthropathy
Gandham SriLakshmi Bhavani, Hitesh Shah, Anju Shukla, and Katta Mohan Girisha.
Initial Posting: July 14, 2016; Last Revision: March 30, 2023.
- Multiple Acyl-CoA Dehydrogenase Deficiency
Pankaj Prasun.
Initial Posting: June 18, 2020.
- Multiple Endocrine Neoplasia Type 1
Francesca Giusti, Francesca Marini, and Maria Luisa Brandi.
Initial Posting: August 31, 2005; Last Update: March 10, 2022.
- Multiple Endocrine Neoplasia Type 2
Charis Eng and Gilman Plitt.
Initial Posting: September 27, 1999; Last Update: August 10, 2023.
- Multiple Endocrine Neoplasia Type 4
Pamela Brock and Lawrence Kirschner.
Initial Posting: September 21, 2023.
- Multiple Epiphyseal Dysplasia, Autosomal Dominant
Michael D Briggs, Michael J Wright, and Geert R Mortier.
Initial Posting: January 8, 2003; Last Update: July 4, 2024.
- Multiple Sulfatase Deficiency
Lars Schlotawa, Laura Adang, Mauricio De Castro, and Rebecca Ahrens-Nicklas.
Initial Posting: March 21, 2019.
- Myhre Syndrome
Angela E Lin, Nicola Brunetti-Pierri, Mark E Lindsay, Lisa A Schimmenti, and Lois J Starr.
Initial Posting: April 13, 2017; Last Update: November 24, 2022.
- Myotonia Congenita
Morten Dunø and John Vissing.
Initial Posting: August 3, 2005; Last Update: February 25, 2021.
- Myotonic Dystrophy Type 1
Thomas D Bird.
Initial Posting: September 17, 1999; Last Revision: March 21, 2024.
- Myotonic Dystrophy Type 2
Benedikt Schoser.
Initial Posting: September 21, 2006; Last Update: March 19, 2020.
N
- NDP-Related Retinopathies
Brittni A Scruggs, Madeline Q Reding, and Lisa A Schimmenti.
Initial Posting: July 30, 1999; Last Revision: March 23, 2023.
- NF2-Related Schwannomatosis
D Gareth Evans.
Initial Posting: October 14, 1998; Last Update: April 20, 2023.
- NFIA-Related Disorder
T Niroshini Senaratne and Fabiola Quintero-Rivera.
Initial Posting: June 13, 2019.
- NFIX-Related Malan Syndrome
Manuela Priolo.
Initial Posting: August 1, 2024.
- NGLY1-Related Congenital Disorder of Deglycosylation
Christina Lam, Lynne Wolfe, Anna Need, Vandana Shashi, and Gregory Enns.
Initial Posting: February 8, 2018.
- NKX2-1-Related Disorders
Neepa Jayant Patel and Joseph Jankovic.
Initial Posting: February 20, 2014; Last Update: June 29, 2023.
- NKX6-2-Related Disorder
Viorica Chelban, Namik Kaya, Fowzan Alkuraya, and Henry Houlden.
Initial Posting: October 4, 2018.
- NOTCH3-Related Lateral Meningocele Syndrome
Resham Ejaz, Melissa Carter, and Karen Gripp.
Initial Posting: June 23, 2016; Last Update: May 5, 2022.
- NR0B1-Related Adrenal Hypoplasia Congenita
John C Achermann and Eric J Vilain.
Initial Posting: November 20, 2001; Last Update: January 25, 2018.
- NR2F1-Related Neurodevelopmental Disorder
Christian Schaaf, Patrick Yu-Wai-Man, and Ilia Valentin.
Initial Posting: December 8, 2022.
- NSDHL-Related Disorders
Mazen Kurban, Jinia El Feghaly, and Lamiaa Hamie.
Initial Posting: February 1, 2011; Last Update: September 5, 2024.
- NTHL1 Tumor Syndrome
Roland P Kuiper, Maartje Nielsen, Richarda M De Voer, and Nicoline Hoogerbrugge.
Initial Posting: April 2, 2020.
- NTRK1 Congenital Insensitivity to Pain with Anhidrosis
Yasuhiro Indo.
Initial Posting: August 5, 2008; Last Update: April 30, 2020.
- Nail-Patella Syndrome
Elizabeth Sweeney, Julie E Hoover-Fong, and Iain McIntosh.
Initial Posting: May 31, 2003; Last Revision: December 14, 2023.
- Nephronophthisis-Related Ciliopathies
Marijn Stokman, Marc Lilien, and Nine Knoers.
Initial Posting: June 23, 2016; Last Update: March 2, 2023.
- Neurodegeneration with Brain Iron Accumulation Disorders Overview
Allison Gregory and Susan Hayflick.
Initial Posting: February 28, 2013; Last Update: October 21, 2019.
- Neuroferritinopathy
Patrick F Chinnery.
Initial Posting: April 25, 2005; Last Update: October 20, 2022.
- Neurofibromatosis 1
Jan M Friedman.
Initial Posting: October 2, 1998; Last Update: April 21, 2022.
- Nevoid Basal Cell Carcinoma Syndrome
D Gareth Evans.
Initial Posting: June 20, 2002; Last Update: February 22, 2024.
- Nicolaides-Baraitser Syndrome
Omar Abdul-Rahman.
Initial Posting: October 15, 2015.
- Niemann-Pick Disease Type C
Marc Patterson.
Initial Posting: January 26, 2000; Last Update: December 10, 2020.
- Nijmegen Breakage Syndrome
Raymonda Varon, Ilja Demuth, and Krystyna H Chrzanowska.
Initial Posting: May 17, 1999; Last Revision: November 30, 2023.
- Nonketotic Hyperglycinemia
Johan LK Van Hove, Curtis Coughlin, II, Michael Swanson, and Julia B Hennermann.
Initial Posting: November 14, 2002; Last Update: May 23, 2019.
- Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development
Emmanuèle C Délot and Eric J Vilain.
Initial Posting: October 30, 2003; Last Update: May 26, 2022.
- Nonsyndromic Disorders of Testicular Development Overview
Lauren Mohnach, Patricia Y Fechner, and Catherine E Keegan.
Initial Posting: May 21, 2008; Last Update: August 18, 2022.
- Nonsyndromic Hearing Loss and Deafness, Mitochondrial
Shin-ichi Usami and Shin-ya Nishio.
Initial Posting: October 22, 2004; Last Update: June 14, 2018.
- Nonsyndromic Retinitis Pigmentosa Overview
Abigail T Fahim, Stephen P Daiger, and Richard G Weleber.
Initial Posting: August 4, 2000; Last Revision: April 6, 2023.
- Nonsyndromic Tooth Agenesis Overview
Ariadne Letra, Brett Chiquet, Emily Hansen-Kiss, Simone Menezes, and Elizabeth Hunter.
Initial Posting: July 22, 2021.
- Noonan Syndrome
Amy E Roberts.
Initial Posting: November 15, 2001; Last Revision: February 17, 2022.
- Noonan Syndrome with Multiple Lentigines
Bruce D Gelb and Marco Tartaglia.
Initial Posting: November 30, 2007; Last Update: June 30, 2022.
- Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
Shamima Rahman and David Thorburn.
Initial Posting: October 1, 2015; Last Update: July 16, 2020.
O
- OTOF-Related Deafness
Hela Azaiez, Ryan K Thorpe, and Richard JH Smith.
Initial Posting: February 29, 2008; Last Update: January 21, 2021.
- Oculocutaneous Albinism and Ocular Albinism Overview
Mervyn G Thomas, Jonathan Zippin, and Brian P Brooks.
Initial Posting: April 13, 2023.
- Oculocutaneous Albinism Type 4
Masahiro Hayashi and Tamio Suzuki.
Initial Posting: November 17, 2005; Last Update: September 7, 2017.
- Oculopharyngeal Muscular Dystrophy
Capucine Trollet, Alexis Boulinguiez, Fanny Roth, Tanya Stojkovic, Gillian Butler-Browne, Teresinha Evangelista, Jean Lacau St Guily, and Pascale Richard.
Initial Posting: March 8, 2001; Last Update: October 22, 2020.
- Okur-Chung Neurodevelopmental Syndrome
Wendy Chung and Volkan Okur.
Initial Posting: June 9, 2022.
- Oral-Facial-Digital Syndrome Type I
Brunella Franco, Ange-Line Bruel, and Christel Thauvin-Robinet.
Initial Posting: July 24, 2002; Last Update: May 11, 2023.
- Ornithine Transcarbamylase Deficiency
Uta Lichter-Konecki, Ljubica Caldovic, Hiroki Morizono, Kara Simpson, Nicholas Ah Mew, and Erin MacLeod.
Initial Posting: August 29, 2013; Last Revision: May 26, 2022.
- Osteoglophonic Dysplasia
Amna A Othman, Holly E Babcock, and Carlos R Ferreira.
Initial Posting: April 18, 2024.
- Osteopathia Striata with Cranial Sclerosis
Russell Gear and Ravi Savarirayan.
Initial Posting: April 15, 2021; Last Revision: March 30, 2023.
P
- PACS1 Neurodevelopmental Disorder
Laina Lusk, Simone Smith, Christa Martin, Cora Taylor, and Wendy Chung.
Initial Posting: July 16, 2020.
- PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia
Stefanie Brock, William B Dobyns, and Anna Jansen.
Initial Posting: March 3, 2009; Last Update: March 25, 2021.
- PAX2-Related Disorder
Matthew A Bower, Lisa A Schimmenti, and Michael R Eccles.
Initial Posting: June 8, 2007; Last Update: February 8, 2018.
- PAX6-Related Aniridia
Mariya Moosajee, Melanie Hingorani, and Anthony T Moore.
Initial Posting: May 20, 2003; Last Update: October 18, 2018.
- PI4KA-Related Disorder
Emma L Baple, Claire Salter, Holm Uhlig, Nicole I Wolf, and Andrew H Crosby.
Initial Posting: August 11, 2022.
- PIK3CA-Related Overgrowth Spectrum
Ghayda Mirzaa, John M Graham, Jr, and Kim Keppler-Noreuil.
Initial Posting: August 15, 2013; Last Revision: April 6, 2023.
- PINK1 Type of Young-Onset Parkinson Disease
Lara M Lange and Christine Klein.
Initial Posting: March 16, 2010; Last Update: April 25, 2024.
- PLA2G6-Associated Neurodegeneration
Allison Gregory, Manju A Kurian, Eamonn R Maher, Penelope Hogarth, and Susan J Hayflick.
Initial Posting: June 19, 2008; Last Update: March 23, 2017.
- PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome
Marianne Rohrbach and Cecilia Giunta.
Initial Posting: February 2, 2000; Last Update: June 13, 2024.
- PLP1 Disorders
Nicole I Wolf, Rosalina ML van Spaendonk, Grace M Hobson, and John Kamholz.
Initial Posting: June 15, 1999; Last Update: December 19, 2019.
- PLPBP Deficiency
Hilal Al-Shekaili, Jolita Ciapaite, Clara van Karnebeek, and Izabella Pena.
Initial Posting: February 16, 2023.
- PMM2-CDG
Christina Lam and Donna M Krasnewich.
Initial Posting: August 15, 2005; Last Update: May 20, 2021.
- PNPLA6 Disorders
Matthis Synofzik, Robert B Hufnagel, and Stephan Züchner.
Initial Posting: October 9, 2014; Last Update: June 10, 2021.
- PNPO Deficiency
Barbara Plecko and Philippa Mills.
Initial Posting: June 23, 2022.
- POLG-Related Disorders
Bruce H Cohen, Patrick F Chinnery, and William C Copeland.
Initial Posting: March 16, 2010; Last Update: February 29, 2024.
- POLR3-Related Leukodystrophy
Geneviève Bernard and Adeline Vanderver.
Initial Posting: August 2, 2012; Last Update: May 11, 2017.
- PORCN-Related Developmental Disorders
V Reid Sutton.
Initial Posting: May 15, 2008; Last Update: June 15, 2023.
- POT1 Tumor Predisposition
Marie-Louise Henry, Jenae Osborne, and Tobias Else.
Initial Posting: October 29, 2020; Last Revision: March 10, 2022.
- PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome
Ebba Alkhunaizi and David Chitayat.
Initial Posting: September 9, 2021; Last Revision: March 7, 2024.
- PPP2R1A-Related Neurodevelopmental Disorder
Sofia Douzgou, Veerle Janssens, and Gunnar Houge.
Initial Posting: May 12, 2022.
- PPP2R5D-Related Neurodevelopmental Disorder
Ghayda Mirzaa, Kimberly Foss, Mary Nattakom, and Wendy K Chung.
Initial Posting: January 24, 2019.
- PRICKLE1-Related Disorders
Mario Mastrangelo, Caterina Caputi, Dario Esposito, and Vincenzo Leuzzi.
Initial Posting: September 8, 2009; Last Update: April 21, 2022.
- PROP1-Related Combined Pituitary Hormone Deficiency
Luciani Renata Carvalho, Mirian Yumie Nishi, Fernanda Azevedo Correa, Juliana Moreira Marques, Ivo Jorge Prado Arnhold, and Berenice B Mendonca.
Initial Posting: December 7, 2000; Last Update: February 24, 2022.
- PRRT2-Related Disorder
Kathryn Yang, Vincente Quiroz, and Darius Ebrahimi-Fakhari.
Initial Posting: January 11, 2018; Last Update: July 4, 2024.
- PTEN Hamartoma Tumor Syndrome
Lamis Yehia and Charis Eng.
Initial Posting: November 29, 2001; Last Update: February 11, 2021.
- PURA-Related Neurodevelopmental Disorders
Margot RF Reijnders, Richard J Leventer, Bo Hoon Lee, Diana Baralle, Paulo Selber, Alex R Paciorkowski, and David Hunt.
Initial Posting: April 27, 2017.
- Pachyonychia Congenita
Frances JD Smith, C David Hansen, Peter R Hull, Roger L Kaspar, WH Irwin McLean, Edel O’Toole, and Eli Sprecher.
Initial Posting: January 27, 2006; Last Update: November 30, 2017.
- Pancreatitis Overview
Celeste Shelton, Jessica LaRusch, and David C Whitcomb.
Initial Posting: March 13, 2014; Last Update: July 2, 2020.
- Pantothenate Kinase-Associated Neurodegeneration
Allison Gregory and Susan J Hayflick.
Initial Posting: August 13, 2002; Last Update: August 3, 2017.
- Parkin Type of Early-Onset Parkinson Disease
Norbert Brüggemann and Christine Klein.
Initial Posting: April 17, 2001; Last Update: April 23, 2020.
- Parkinson Disease Overview
Lola Cook Shukla, Jeanine Schulze, Janice Farlow, Nathan D Pankratz, Joanne Wojcieszek, and Tatiana Foroud.
Initial Posting: May 25, 2004; Last Update: July 25, 2019.
- Pediatric Genetic Cholestatic Liver Disease Overview
Maria Amendola and James E Squires.
Initial Posting: September 15, 2022; Last Revision: May 25, 2023.
- Pelizaeus-Merzbacher-Like Disease 1
Norah Nahhas, Alex Conant, Jennifer Orthmann-Murphy, Adeline Vanderver, and Grace Hobson.
Initial Posting: December 21, 2017; Last Revision: January 17, 2019.
- Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct
Richard JH Smith, Yoichiro Iwasa, and Amanda M Schaefer.
Initial Posting: September 28, 1998; Last Revision: June 18, 2020.
- Periodontal Ehlers-Danlos Syndrome
Ines Kapferer-Seebacher, Fleur S van Dijk, and Johannes Zschocke.
Initial Posting: July 29, 2021.
- Permanent Neonatal Diabetes Mellitus
Diva D De León and Charles A Stanley.
Initial Posting: February 8, 2008; Last Update: July 29, 2016.
- Perrault Syndrome
William G Newman, Thomas B Friedman, Gerard S Conway, and Leigh AM Demain.
Initial Posting: September 25, 2014; Last Update: September 6, 2018.
- Peters Plus Syndrome
Saskia AJ Lesnik Oberstein, Claudia AL Ruivenkamp, and Raoul C Hennekam.
Initial Posting: October 8, 2007; Last Update: August 24, 2017.
- Peutz-Jeghers Syndrome
Thomas J McGarrity, Christopher I Amos, and Maria J Baker.
Initial Posting: February 23, 2001; Last Update: September 2, 2021.
- Phelan-McDermid Syndrome-SHANK3 Related
Katy Phelan, R Curtis Rogers, and Luigi Boccuto.
Initial Posting: May 11, 2005; Last Update: June 6, 2024.
- Phenylalanine Hydroxylase Deficiency
Debra S Regier and Carol L Greene.
Initial Posting: January 10, 2000; Last Revision: January 5, 2017.
- Phosphoribosylpyrophosphate Synthetase Superactivity
Arjan PM de Brouwer and John Christodoulou.
Initial Posting: September 23, 2008; Last Update: February 17, 2022.
- Phosphoribosylpyrophosphate Synthetase Deficiency
Arjan PM de Brouwer and John Christodoulou.
Initial Posting: October 21, 2008; Last Update: June 8, 2023.
- Phosphorylase Kinase Deficiency
Mrudu Herbert, Jennifer L Goldstein, Catherine Rehder, Stephanie Austin, Priya S Kishnani, and Deeksha S Bali.
Initial Posting: May 31, 2011; Last Update: November 1, 2018.
- Pitt-Hopkins Syndrome
David A Sweetser, Ibrahim Elsharkawi, Lael Yonker, Marcie Steeves, Kimberly Parkin, and Ronald Thibert.
Initial Posting: August 30, 2012; Last Update: April 12, 2018.
- Poikiloderma with Neutropenia
Lisa Wang, Carol Clericuzio, Lidia Larizza, and Daniela Concolino.
Initial Posting: October 26, 2017; Last Update: February 22, 2024.
- Polycystic Kidney Disease, Autosomal Dominant
Peter C Harris and Vicente E Torres.
Initial Posting: January 10, 2002; Last Update: September 29, 2022.
- Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
Juha Paloneva, Taina Autti, Panu Hakola, and Matti J Haltia.
Initial Posting: January 24, 2002; Last Update: December 10, 2020.
- Pompe Disease
Nancy Leslie and Laurie Bailey.
Initial Posting: August 31, 2007; Last Revision: November 2, 2023.
- Potocki-Lupski Syndrome
Lorraine Potocki, Juanita Neira-Fresneda, and Bo Yuan.
Initial Posting: August 24, 2017.
- Prader-Willi Syndrome
Daniel J Driscoll, Jennifer L Miller, and Suzanne B Cassidy.
Initial Posting: October 6, 1998; Last Revision: November 2, 2023.
- Primary Ciliary Dyskinesia
Maimoona A Zariwala, Michael R Knowles, and Margaret W Leigh.
Initial Posting: January 24, 2007; Last Update: December 5, 2019.
- Primary Congenital Glaucoma
Khaled K Abu-Amero and Deepak P Edward.
Initial Posting: September 30, 2004; Last Update: August 17, 2017.
- Primary Coenzyme Q10 Deficiency Overview
Leonardo Salviati, Eva Trevisson, Caterina Agosto, Mara Doimo, and Placido Navas.
Initial Posting: January 26, 2017; Last Update: June 8, 2023.
- Primary Familial and Congenital Polycythemia
Celeste Bento, Mary Frances McMullin, Melanie Percy, and Holger Cario.
Initial Posting: November 10, 2016.
- Primary Familial Brain Calcification
Eliana Marisa Ramos, Joao Oliveira, Maria J Sobrido, and Giovanni Coppola.
Initial Posting: April 18, 2004; Last Update: August 24, 2017.
- Primary Hyperoxaluria Type 1
Dawn S Milliner, Peter C Harris, David J Sas, Andrea G Cogal, and John C Lieske.
Initial Posting: June 19, 2002; Last Update: August 15, 2024.
- Primary Hyperoxaluria Type 2
Gill Rumsby and Sally-Anne Hulton.
Initial Posting: December 2, 2008; Last Update: December 21, 2017.
- Primary Hyperoxaluria Type 3
Dawn S Milliner, Peter C Harris, David J Sas, and John C Lieske.
Initial Posting: September 24, 2015; Last Update: February 9, 2023.
- Primary Mitochondrial Disorders Overview
Patrick F Chinnery.
Initial Posting: June 8, 2000; Last Update: July 29, 2021.
- Primary Pyruvate Dehydrogenase Complex Deficiency Overview
Rebecca Ganetzky, Elizabeth M McCormick, and Marni J Falk.
Initial Posting: June 17, 2021.
- Primary Trimethylaminuria
Ian R Phillips and Elizabeth A Shephard.
Initial Posting: October 8, 2007; Last Update: November 5, 2020.
- Primrose Syndrome
Veronica Arora, Carlos R Ferreira, Ratna Dua Puri, and Ishwar Chandar Verma.
Initial Posting: May 6, 2021; Last Revision: June 17, 2021.
- Progressive Myoclonic Epilepsy Type 1
Anna-Elina Lehesjoki and Reetta Kälviäinen.
Initial Posting: June 24, 2004; Last Update: July 2, 2020.
- Progressive Myoclonus Epilepsy, Lafora Type
Anna C Jansen and Eva Andermann.
Initial Posting: December 28, 2007; Last Update: February 21, 2019.
- Progressive Pseudorheumatoid Dysplasia
Gandham SriLakshmi Bhavani, Hitesh Shah, Anju Shukla, Ashwin Dalal, and Katta Mohan Girisha.
Initial Posting: November 25, 2015; Last Update: December 23, 2020.
- Prolidase Deficiency
Francis Rossignol, Heng Wang, and Carlos Ferreira.
Initial Posting: June 25, 2015; Last Update: July 7, 2022.
- Propionic Acidemia
Carolina I Galarreta Aima, Oleg A Shchelochkov, Teodoro Jerves Serrano, and Charles P Venditti.
Initial Posting: May 17, 2012; Last Update: September 26, 2024.
- Proteus Syndrome
Leslie G Biesecker and Julie C Sapp.
Initial Posting: August 9, 2012; Last Update: May 25, 2023.
- Prothrombin Thrombophilia
Jody L Kujovich.
Initial Posting: July 25, 2006; Last Update: February 4, 2021.
- Pseudohypoaldosteronism Type II
David H Ellison.
Initial Posting: November 10, 2011; Last Update: February 16, 2017.
- Pseudoxanthoma Elasticum
Sharon F Terry and Jouni Uitto.
Initial Posting: June 5, 2001; Last Update: June 4, 2020.
- Pulmonary Fibrosis Predisposition Overview
Christine Kim Garcia and Janet L Talbert.
Initial Posting: January 21, 2005; Last Revision: May 12, 2022.
- Pycnodysostosis
Shannon LeBlanc and Ravi Savarirayan.
Initial Posting: November 5, 2020; Last Revision: April 6, 2023.
- Pyridoxine-Dependent Epilepsy – ALDH7A1
Sidney M Gospe, Jr.
Initial Posting: December 7, 2001; Last Update: September 22, 2022.
- Pyruvate Carboxylase Deficiency
Maria Laura Duque Lasio, April N Lehman, Ayesha Ahmad, and Jirair K Bedoyan.
Initial Posting: June 2, 2009; Last Update: May 30, 2024.
R
- RAB18 Deficiency
Mark Handley and Eamonn Sheridan.
Initial Posting: January 4, 2018.
- RERE-Related Disorders
Daryl A Scott and Elliott H Sherr.
Initial Posting: March 21, 2019.
- RFC1 CANVAS / Spectrum Disorder
Andrea Cortese, Mary M Reilly, and Henry Houlden.
Initial Posting: November 25, 2020.
- RNU4atac-opathy
Angela Duker, Danita Velasco, Nic Robertson, Andrew Jackson, Magee DeFelice, and Michael B Bober.
Initial Posting: February 16, 2023.
- ROR2-Related Robinow Syndrome
Carlos A Bacino.
Initial Posting: July 28, 2005; Last Revision: September 12, 2019.
- RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
Daniel L Chao, Amanda Burr, and Mark Pennesi.
Initial Posting: November 14, 2019.
- RPS6KA3-Related Intellectual Disability
R Curtis Rogers and Fatima E Abidi.
Initial Posting: July 16, 2002; Last Update: March 16, 2023.
- RRM2B Mitochondrial DNA Maintenance Defects
Albert Z Lim, Robert McFarland, Robert W Taylor, and Gráinne S Gorman.
Initial Posting: April 17, 2014; Last Update: June 24, 2021.
- RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies
Natalie Deuitch, Elizabeth Broadbridge, Lea Cunningham, and Paul Liu.
Initial Posting: March 4, 2021; Last Revision: January 11, 2024.
- Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations
Irene de Boer, Nadine Pelzer, and Gisela Terwindt.
Initial Posting: September 19, 2019.
- Retinoblastoma
Dietmar R Lohmann and Brenda L Gallie.
Initial Posting: July 18, 2000; Last Update: September 21, 2023.
- Rhabdoid Tumor Predisposition Syndrome
Karolina Nemes, Susanne Bens, Franck Bourdeaut, Pascal Johann, Uwe Kordes, Reiner Siebert, and Michael C Frühwald.
Initial Posting: December 7, 2017; Last Update: May 12, 2022.
- Rhizomelic Chondrodysplasia Punctata Type 1
Nancy E Braverman, Steven J Steinberg, Wedad Fallatah, Angela Duker, and Michael B Bober.
Initial Posting: November 16, 2001; Last Update: January 30, 2020.
- Riboflavin Transporter Deficiency
Elisa Cali, Natalia Dominik, Andreea Manole, and Henry Houlden.
Initial Posting: June 11, 2015; Last Update: April 8, 2021.
- Ritscher-Schinzel Syndrome
Alison M Elliott and Albert Chudley.
Initial Posting: January 23, 2020.
- Rothmund-Thomson Syndrome
Lisa L Wang and Sharon E Plon.
Initial Posting: October 6, 1999; Last Revision: June 4, 2020.
- Rotor Syndrome
Milan Jirsa, AS Knisely, Alfred Schinkel, and Stanislav Kmoch.
Initial Posting: December 13, 2012; Last Update: July 11, 2019.
- Rubinstein-Taybi Syndrome
Cathy A Stevens.
Initial Posting: August 30, 2002; Last Update: November 9, 2023.
S
- SALL1-Related Townes-Brocks Syndrome
Claudio Graziano and Giulia Olivucci.
Initial Posting: January 24, 2007; Last Update: August 8, 2024.
- SALL4-Related Disorders
Jürgen Kohlhase.
Initial Posting: August 16, 2004; Last Update: March 17, 2022.
- SAMD9L Ataxia-Pancytopenia Syndrome
Wendy H Raskind, Dong-Hui Chen, and Thomas Bird.
Initial Posting: June 1, 2017; Last Update: February 4, 2021.
- SATB2-Associated Syndrome
Yuri A Zarate, Katherine Bosanko, and Jennifer Fish.
Initial Posting: October 12, 2017; Last Update: June 20, 2024.
- SCARB2-Related Action Myoclonus – Renal Failure Syndrome
Changrui Xiao, Haejun Ahn, Sara Kibrom, and Camilo Toro.
Initial Posting: December 17, 2015; Last Update: February 9, 2023.
- SCN1A Seizure Disorders
Ian O Miller and Marcio A Sotero de Menezes.
Initial Posting: November 29, 2007; Last Revision: February 17, 2022.
- SCN3A-Related Neurodevelopmental Disorder
Katherine L Helbig and Ethan M Goldberg.
Initial Posting: June 3, 2021; Last Revision: November 4, 2021.
- SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders
Michael F Hammer, Maya Xia, and John M Schreiber.
Initial Posting: August 25, 2016; Last Update: April 6, 2023.
- SCN9A Neuropathic Pain Syndromes
Fuki M Hisama, Sulayman D Dib-Hajj, and Stephen G Waxman.
Initial Posting: May 6, 2006; Last Update: January 23, 2020.
- SERAC1 Deficiency
Saskia B Wortmann, Arjan PM de Brouwer, Ron A Wevers, and Eva Morava.
Initial Posting: April 17, 2014; Last Update: July 23, 2020.
- SETBP1 Haploinsufficiency Disorder
Angela Morgan, Siddharth Srivastava, Jessica Duis, and Bregje van Bon.
Initial Posting: November 18, 2021; Last Revision: May 9, 2024.
- SETD1B-Related Neurodevelopmental Disorder
Alexandra Roston and William Gibson.
Initial Posting: September 29, 2022.
- SETD2 Neurodevelopmental Disorders
John Pappas and Rachel Rabin.
Initial Posting: December 30, 2021; Last Revision: September 22, 2022.
- SGCE Myoclonus-Dystonia
Deborah Raymond, Rachel Saunders-Pullman, and Laurie Ozelius.
Initial Posting: May 21, 2003; Last Revision: June 4, 2020.
- SH3TC2-Related Hereditary Motor and Sensory Neuropathy
Hamid Azzedine and Mustafa A Salih.
Initial Posting: March 31, 2008; Last Update: March 11, 2021.
- SHORT Syndrome
A Micheil Innes and David A Dyment.
Initial Posting: May 15, 2014; Last Update: June 4, 2020.
- SHOX Deficiency Disorders
Gerhard Binder and Gudrun A Rappold.
Initial Posting: December 12, 2005; Last Revision: May 23, 2024.
- SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures
Amy McTague and Manju A Kurian.
Initial Posting: February 14, 2019.
- SLC25A19-Related Thiamine Metabolism Dysfunction
Brahim Tabarki, Farah Thabet, and Majid Alfadhel.
Initial Posting: September 4, 2003; Last Update: March 30, 2023.
- SLC25A24 Fontaine Progeroid Syndrome
Danita Velasco, Ann Haskins Olney, and Lois Starr.
Initial Posting: June 9, 2022.
- SLC26A2-Related Atelosteogenesis
Andrea Superti-Furga and Sheila Unger.
Initial Posting: August 30, 2002; Last Revision: March 16, 2023.
- SLC26A2-Related Multiple Epiphyseal Dysplasia
Sheila Unger and Andrea Superti-Furga.
Initial Posting: August 29, 2002; Last Update: January 19, 2023.
- SLC39A8-CDG
Julien H Park.
Initial Posting: April 6, 2023.
- SLC39A14 Deficiency
Karin Tuschl, Allison Gregory, Esther Meyer, Peter T Clayton, Susan J Hayflick, Philippa B Mills, and Manju A Kurian.
Initial Posting: May 25, 2017; Last Update: December 8, 2022.
- SLC6A1-Related Neurodevelopmental Disorder
Kimberly Goodspeed, Scott Demarest, Katrine Johannesen, Jingqiong Kang, Dennis Lal, and Katie Angione.
Initial Posting: February 9, 2023.
- SLC6A3-Related Dopamine Transporter Deficiency Syndrome
Robert VV Spaull and Manju A Kurian.
Initial Posting: July 27, 2017; Last Update: September 28, 2023.
- SOST-Related Sclerosing Bone Dysplasias
Natasha Appelman-Dijkstra, Antoon Van Lierop, and Socrates Papapoulos.
Initial Posting: June 4, 2002; Last Update: August 1, 2024.
- SOX2 Disorder
Kathleen A Williamson, T Michael Yates, and David R FitzPatrick.
Initial Posting: February 23, 2006; Last Update: July 30, 2020.
- SPTBN4 Disorder
Xilma Ortiz-Gonzalez and Klaas Wierenga.
Initial Posting: July 16, 2020.
- SPTLC1-Related Hereditary Sensory Neuropathy
Garth A Nicholson.
Initial Posting: September 23, 2002; Last Revision: December 2, 2021.
- STAC3 Disorder
Bryn D Webb, Irini Manoli, and Ethylin Wang Jabs.
Initial Posting: June 20, 2019.
- STAT3 Hyper IgE Syndrome
Amy P Hsu, Joie Davis, Jennifer M Puck, Steven M Holland, and Alexandra F Freeman.
Initial Posting: February 23, 2010; Last Update: March 26, 2020.
- STRC-Related Autosomal Recessive Hearing Loss
Shelby Redfield and A Eliot Shearer.
Initial Posting: December 14, 2023.
- STXBP1 Encephalopathy with Epilepsy
Saadet Mercimek-Andrews.
Initial Posting: December 1, 2016; Last Update: September 28, 2023.
- SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
Ayman W El-Hattab and Fernando Scaglia.
Initial Posting: May 26, 2009; Last Update: September 28, 2023.
- SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
Ayman W El-Hattab and Fernando Scaglia.
Initial Posting: March 30, 2017.
- SYNE1 Deficiency
Marie Beaudin, Pierre-Luc Gamache, François Gros-Louis, and Nicolas Dupré.
Initial Posting: February 23, 2007; Last Update: December 6, 2018.
- SYNGAP1-Related Intellectual Disability
J Lloyd Holder, Jr, Fadi F Hamdan, and Jacques L Michaud.
Initial Posting: February 21, 2019.
- Saethre-Chotzen Syndrome
Emily R Gallagher, Chootima Ratisoontorn, and Michael L Cunningham.
Initial Posting: May 16, 2003; Last Update: January 24, 2019.
- Salih Myopathy
Peter Hackman, Marco Savarese, Virginie Carmignac, Bjarne Udd, and Mustafa A Salih.
Initial Posting: January 12, 2012; Last Update: April 11, 2019.
- Sandhoff Disease
Changrui Xiao, Cynthia Tifft, and Camilo Toro.
Initial Posting: April 14, 2022.
- Saul-Wilson Syndrome
Carlos Ferreira.
Initial Posting: February 20, 2020.
- Schaaf-Yang Syndrome
Christian P Schaaf and Felix Marbach.
Initial Posting: February 11, 2021; Last Revision: November 4, 2021.
- Schimke Immunoosseous Dysplasia
Elizabeth Lippner, Thomas Lücke, Carlos Salgado, Cornelius Boerkoel, and David B Lewis.
Initial Posting: October 1, 2002; Last Revision: March 30, 2023.
- Schinzel-Giedion Syndrome
Jessica Duis and Bregje WM van Bon.
Initial Posting: March 7, 2024.
- Schmid Metaphyseal Chondrodysplasia
Christopher Mark Richmond and Ravi Savarirayan.
Initial Posting: October 21, 2019; Last Update: May 9, 2024.
- Sepiapterin Reductase Deficiency
Jennifer Friedman.
Initial Posting: July 1, 2015.
- Serine Deficiency Disorders
Saskia N van der Crabben and Tom J de Koning.
Initial Posting: June 22, 2023.
- Short-Chain Acyl-CoA Dehydrogenase Deficiency
Lynne Wolfe, Reena Jethva, Devin Oglesbee, and Jerry Vockley.
Initial Posting: September 22, 2011; Last Update: August 9, 2018.
- Shprintzen-Goldberg Syndrome
Marie T Greally.
Initial Posting: January 13, 2006; Last Update: April 9, 2020.
- Shwachman-Diamond Syndrome
Adam Nelson and Kasiani Myers.
Initial Posting: July 17, 2008; Last Update: September 19, 2024.
- Sickle Cell Disease
MA Bender and Katie Carlberg.
Initial Posting: September 15, 2003; Last Revision: December 28, 2023.
- Simpson-Golabi-Behmel Syndrome Type 1
Steven D Klein, Alex F Nisbet, Evan R Hathaway, and Jennifer M Kalish.
Initial Posting: December 19, 2006; Last Update: December 7, 2023.
- Single Large-Scale Mitochondrial DNA Deletion Syndromes
Amy Goldstein and Marni J Falk.
Initial Posting: December 17, 2003; Last Update: September 28, 2023.
- Sitosterolemia
Semone B Myrie, Robert D Steiner, and David Mymin.
Initial Posting: April 4, 2013; Last Update: July 16, 2020.
- Smith-Lemli-Opitz Syndrome
Malgorzata JM Nowaczyk and Christopher A Wassif.
Initial Posting: November 13, 1998; Last Update: January 30, 2020.
- Smith-Magenis Syndrome
Ann CM Smith, Kerry E Boyd, Christine Brennan, Jane Charles, Sarah H Elsea, Brenda M Finucane, Rebecca Foster, Andrea Gropman, Santhosh Girirajan, and Barbara Haas-Givler.
Initial Posting: October 22, 2001; Last Revision: March 10, 2022.
- Snyder-Robinson Syndrome
Charles E Schwartz, Angela Peron, and Mary Jo Kutler.
Initial Posting: June 27, 2013; Last Update: February 13, 2020.
- Sotos Syndrome
Katrina Tatton-Brown, Trevor RP Cole, and Nazneen Rahman.
Initial Posting: December 17, 2004; Last Revision: December 1, 2022.
- Spastic Paraplegia 3A
Peter Hedera.
Initial Posting: September 21, 2010; Last Update: June 18, 2020.
- Spastic Paraplegia 4
Livia Parodi, Siri Lynne Rydning, Chantal Tallaksen, and Alexandra Durr.
Initial Posting: April 17, 2003; Last Update: June 13, 2019.
- Spastic Paraplegia 7
Giorgio Casari and Roberto Marconi.
Initial Posting: August 24, 2006; Last Update: October 25, 2018.
- Spastic Paraplegia 8
Inge A Meijer, Paul N Valdmanis, and Guy A Rouleau.
Initial Posting: August 13, 2008; Last Update: May 21, 2020.
- Spastic Paraplegia 11
Giovanni Stevanin.
Initial Posting: March 27, 2008; Last Update: December 19, 2019.
- Spastic Paraplegia 15
Darius Ebrahimi-Fakhari, Julian E Alecu, and Craig Blackstone.
Initial Posting: May 27, 2021.
- Sphingosine Phosphate Lyase Insufficiency Syndrome
Kathryn Nicole Weaver, Bonnie Sullivan, Friedhelm Hildebrandt, Jonathan Strober, Megan Cooper, Rathi Prasad, and Julie Saba.
Initial Posting: October 15, 2020.
- Spinal and Bulbar Muscular Atrophy
Albert La Spada.
Initial Posting: February 26, 1999; Last Update: December 15, 2022.
- Spinal Muscular Atrophy
Thomas W Prior, Meganne E Leach, and Erika L Finanger.
Initial Posting: February 24, 2000; Last Update: September 19, 2024.
- Spinal Muscular Atrophy, X-Linked Infantile
Lisa Baumbach-Reardon, JM Hunter, Mary Ellen Ahearn, and Miranda Pfautsch.
Initial Posting: October 30, 2008; Last Revision: May 9, 2024.
- Spinocerebellar Ataxia Type 1
Puneet Opal and Tetsuo Ashizawa.
Initial Posting: October 1, 1998; Last Update: February 2, 2023.
- Spinocerebellar Ataxia Type 2
Stefan M Pulst.
Initial Posting: October 23, 1998; Last Update: February 14, 2019.
- Spinocerebellar Ataxia Type 3
Henry Paulson and Vikram Shakkottai.
Initial Posting: October 10, 1998; Last Update: June 4, 2020.
- Spinocerebellar Ataxia Type 6
Hannah L Casey and Christopher M Gomez.
Initial Posting: October 23, 1998; Last Update: November 21, 2019.
- Spinocerebellar Ataxia Type 7
Albert R La Spada.
Initial Posting: August 27, 1998; Last Update: July 23, 2020.
- Spinocerebellar Ataxia Type 8
John Douglas Cleary, SH Subramony, and Laura PW Ranum.
Initial Posting: November 27, 2001; Last Update: April 22, 2021.
- Spinocerebellar Ataxia Type 10
Tohru Matsuura and Tetsuo Ashizawa.
Initial Posting: April 23, 2002; Last Update: September 19, 2019.
- Spinocerebellar Ataxia Type 11
Zhongbo Chen, Arina Puzriakova, and Henry Houlden.
Initial Posting: July 22, 2008; Last Update: October 31, 2019.
- Spinocerebellar Ataxia Type 13
Michael F Waters.
Initial Posting: November 9, 2006; Last Update: June 4, 2020.
- Spinocerebellar Ataxia Type 14
Dong-Hui Chen, Thomas D Bird, and Wendy H Raskind.
Initial Posting: January 28, 2005; Last Update: February 20, 2020.
- Spinocerebellar Ataxia Type 17
Yasuko Toyoshima, Osamu Onodera, Mitsunori Yamada, Shoji Tsuji, and Hitoshi Takahashi.
Initial Posting: March 29, 2005; Last Revision: July 28, 2022.
- Spinocerebellar Ataxia Type 20
Elsdon Storey and RJM Gardner.
Initial Posting: February 27, 2007; Last Update: April 18, 2019.
- Spinocerebellar Ataxia Type 28
Alessandro Brussino, Alfredo Brusco, Alexandra Durr, and Cecilia Mancini.
Initial Posting: May 17, 2011; Last Update: March 22, 2018.
- Spinocerebellar Ataxia Type 37
Antoni Matilla-Dueñas and Victor Volpini.
Initial Posting: May 30, 2019.
- Spinocerebellar Ataxia Type 38
Alfredo Brusco, Eleonora Di Gregorio, and Barbara Borroni.
Initial Posting: July 11, 2019.
- Spinocerebellar Ataxia with Axonal Neuropathy Type 1
Mustafa AM Salih, Hiroshi Takashima, and Cornelius F Boerkoel.
Initial Posting: October 22, 2007; Last Update: June 30, 2022.
- Spondylocostal Dysostosis, Autosomal Recessive
Peter D Turnpenny, Melissa Sloman, and Sally Dunwoodie.
Initial Posting: August 25, 2009; Last Update: August 17, 2023.
- Spondylometaphyseal Dysplasia, Corner Fracture Type
Jade England, Ashley McFarquhar, and Philippe M Campeau.
Initial Posting: March 19, 2020.
- Squalene Synthase Deficiency
David Coman, Lisenka Vissers, Hans Waterham, John Christodoulou, Ron A Wevers, and James Pitt.
Initial Posting: February 6, 2020.
- Stickler Syndrome
Geert Mortier.
Initial Posting: June 9, 2000; Last Update: September 7, 2023.
- Strømme Syndrome
Stephanie KL Ho, Lai Ting Leung, Ho-ming Luk, and Ivan FM Lo.
Initial Posting: November 10, 2022.
- Succinic Semialdehyde Dehydrogenase Deficiency
Phillip L Pearl, Natrujee Wiwattanadittakul, Jean-Baptiste Roullet, and K Michael Gibson.
Initial Posting: May 5, 2004; Last Update: April 28, 2016.
- Systemic Primary Carnitine Deficiency
Ayman W El-Hattab.
Initial Posting: March 15, 2012; Last Update: November 3, 2016.
T
- TANGO2 Deficiency
Christina Y Miyake, Lindsay Burrage, Kevin Glinton, Kimberly Houck, Alfonso Hoyos-Martinez, Brett Graham, Yaping Yang, Brandy Rawls-Castillo, Fernando Scaglia, Claudia Soler-Alfonso, and Seema R Lalani.
Initial Posting: January 25, 2018; Last Update: March 9, 2023.
- TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia
Vaishnavi Manohar, Leon Crowley, and Jemeen Sreedharan.
Initial Posting: April 23, 2009; Last Update: January 5, 2023.
- TBC1D24-Related Disorders
Bettina E Mucha, Raoul CM Hennekam, Sanjay Sisodiya, and Philippe M Campeau.
Initial Posting: February 26, 2015; Last Update: December 7, 2017.
- TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability
Gali Heimer, Sonja Neuser, Bruria Ben-Zeev, and Darius Ebrahimi-Fakhari.
Initial Posting: September 22, 2022.
- TEK-Related Venous Malformations
Emmanuel Seront, Laurence M Boon, and Miikka Vikkula.
Initial Posting: September 18, 2008; Last Update: March 2, 2023.
- TET3-Related Beck-Fahrner Syndrome
Jill A Fahrner.
Initial Posting: May 18, 2023.
- TFR2-Related Hemochromatosis
Marco De Gobbi and Antonella Roetto.
Initial Posting: August 29, 2005; Last Update: December 7, 2023.
- THOC6 Intellectual Disability Syndrome
Gabrielle Lemire, A Micheil Innes, and Kym M Boycott.
Initial Posting: August 13, 2020.
- TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form
Julia Wang, Ayman W El-Hattab, and Lee-Jun C Wong.
Initial Posting: December 6, 2012; Last Update: July 26, 2018.
- TNF Receptor-Associated Periodic Fever Syndrome
Natalie Deuitch, Cornelia Cudrici, Amanda Ombrello, and Ivona Aksentijevich.
Initial Posting: November 10, 2022.
- TNXB-Related Classical-Like Ehlers-Danlos Syndrome
Fleur S van Dijk, Neeti Ghali, Serwet Demirdas, and Duncan Baker.
Initial Posting: September 15, 2022.
- TP63-Related Disorders
V Reid Sutton and Hans van Bokhoven.
Initial Posting: June 8, 2010; Last Update: April 1, 2021.
- TRIO-Related Neurodevelopmental Disorder
Konstantinos Varvagiannis, Lisenka ELM Vissers, Diana Baralle, Bert BA de Vries, and Gabriella Gazdagh.
Initial Posting: August 10, 2017; Last Update: March 23, 2023.
- TRMU Deficiency
Michaela Reinhart, Colleen Muraresku, and Rebecca Ganetzky.
Initial Posting: May 11, 2023.
- TRPM3-Related Neurodevelopmental Disorder
David Dyment, Matthew Lines, and A Micheil Innes.
Initial Posting: February 23, 2023.
- TSEN54 Pontocerebellar Hypoplasia
Tessa van Dijk and Frank Baas.
Initial Posting: September 8, 2009; Last Update: May 28, 2020.
- TUBB4A-Related Leukodystrophy
Norah Nahhas, Alex Conant, Eline Hamilton, Julian Curiel, Cas Simons, Marjo van der Knaap, and Adeline Vanderver.
Initial Posting: November 3, 2016.
- TXNL4A-Related Craniofacial Disorders
Hermann-Josef Lüdecke and Dagmar Wieczorek.
Initial Posting: July 14, 2016; Last Update: May 12, 2022.
- Tangier Disease
John R Burnett, Amanda J Hooper, Sally PA McCormick, and Robert A Hegele.
Initial Posting: November 21, 2019.
- Tatton-Brown-Rahman Syndrome
Philip J Ostrowski and Katrina Tatton-Brown.
Initial Posting: June 30, 2022.
- Thanatophoric Dysplasia
Tegan French and Ravi Savarirayan.
Initial Posting: May 21, 2004; Last Revision: May 18, 2023.
- Thiamine-Responsive Megaloblastic Anemia Syndrome
Shuhei Sako, Toshiki Tsunogai, and Kimihiko Oishi.
Initial Posting: October 24, 2003; Last Update: July 28, 2022.
- Three M Syndrome
Melita Irving and Muriel Holder-Espinasse.
Initial Posting: March 25, 2002; Last Update: February 7, 2019.
- Thrombocytopenia Absent Radius Syndrome
Florence Petit and Simon Boussion.
Initial Posting: December 8, 2009; Last Revision: November 2, 2023.
- Treacher Collins Syndrome
Mafalda Barbosa, Ethylin Wang Jabs, and Sara Huston.
Initial Posting: July 20, 2004; Last Update: June 20, 2024.
- Trichohepatoenteric Syndrome
Alexandre Fabre, Patrice Bourgeois, Charlène Chaix, Karine Bertaux, Olivier Goulet, and Catherine Badens.
Initial Posting: January 11, 2018.
- Trichorhinophalangeal Syndrome
Beyhan Tüysüz, Nilay Güneş, and Dilek Uludağ Alkaya.
Initial Posting: April 20, 2017; Last Update: March 21, 2024.
- Troyer Syndrome
Emma Baple and Andrew Crosby.
Initial Posting: November 16, 2004; Last Update: June 6, 2019.
- Tuberous Sclerosis Complex
Hope Northrup, Mary Kay Koenig, Deborah A Pearson, and Kit Sing Au.
Initial Posting: July 13, 1999; Last Update: August 1, 2024.
- Tubulinopathies Overview
Nadia Bahi-Buisson and Camille Maillard.
Initial Posting: March 24, 2016; Last Update: September 16, 2021.
- Type II Collagen Disorders Overview
Pernille Axél Gregersen and Ravi Savarirayan.
Initial Posting: April 25, 2019.
- Tyrosine Hydroxylase Deficiency
Yoshiaki Furukawa and Stephen Kish.
Initial Posting: February 8, 2008; Last Update: May 11, 2017.
- Tyrosinemia Type I
Lisa Sniderman King, Cristine Trahms, and C Ronald Scott.
Initial Posting: July 24, 2006; Last Update: May 25, 2017.
U
- UNC80 Deficiency
Nuria C Bramswig and Maha S Zaki.
Initial Posting: September 21, 2017; Last Update: May 18, 2023.
- Udd Distal Myopathy – Tibial Muscular Dystrophy
Bjarne Udd and Peter Hackman.
Initial Posting: February 17, 2005; Last Update: January 2, 2020.
- Urea Cycle Disorders Overview
Nicholas Ah Mew, Kara L Simpson, Andrea L Gropman, Brendan C Lanpher, Kimberly A Chapman, and Marshall L Summar.
Initial Posting: April 29, 2003; Last Update: June 22, 2017.
- Urofacial Syndrome
William G Newman, Adrian S Woolf, Glenda M Beaman, and Neil A Roberts.
Initial Posting: August 22, 2013; Last Update: September 28, 2023.
- Usher Syndrome Type I
Robert K Koenekoop, Moises A Arriaga, Karmen M Trzupek, and Jennifer J Lentz.
Initial Posting: December 10, 1999; Last Revision: October 8, 2020.
- Usher Syndrome Type II
Robert Koenekoop, Moises Arriaga, Karmen M Trzupek, and Jennifer Lentz.
Initial Posting: December 10, 1999; Last Revision: March 23, 2023.
V
- VLDLR Cerebellar Hypoplasia
Kym M Boycott, Stella K MacDonald, and Jillian S Parboosingh.
Initial Posting: August 26, 2008; Last Update: February 27, 2020.
- VPS13A Disease
Kevin Peikert, Carol Dobson-Stone, Luca Rampoldi, Gabriel Miltenberger-Miltenyi, Aaron Neiman, Pietro De Camilli, Andreas Hermann, Ruth H Walker, Anthony P Monaco, and Adrian Danek.
Initial Posting: June 14, 2002; Last Update: March 30, 2023.
- VPS13D Movement Disorder
Inge A Meijer.
Initial Posting: February 21, 2019.
- VPS35-Related Parkinson Disease
Jaroslaw Dulski, Owen A Ross, and Zbigniew K Wszolek.
Initial Posting: August 10, 2017; Last Update: March 23, 2023.
- Variegate Porphyria
Ashwani K Singal and Karl E Anderson.
Initial Posting: February 14, 2013; Last Update: December 12, 2019.
- Vascular Ehlers-Danlos Syndrome
Peter H Byers.
Initial Posting: September 2, 1999; Last Update: February 21, 2019.
- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Nancy D Leslie and Sofia Saenz-Ayala.
Initial Posting: May 28, 2009; Last Revision: July 13, 2023.
- Von Hippel-Lindau Syndrome
Rachel S van Leeuwaarde, Saya Ahmad, Bernadette van Nesselrooij, Wouter Zandee, and Rachel H Giles.
Initial Posting: May 17, 2000; Last Revision: February 29, 2024.
- von Willebrand Disease
Anne Goodeve and Paula James.
Initial Posting: June 4, 2009; Last Update: October 5, 2017.
W
- WAC-Related Intellectual Disability
Konstantinos Varvagiannis, Bert BA de Vries, and Lisenka ELM Vissers.
Initial Posting: November 30, 2017.
- WARS2 Deficiency
Magdalena Mroczek, Aynekin Busra, Henry Houlden, Stephanie Efthymiou, and Sara Nagy.
Initial Posting: October 12, 2023.
- WAS-Related Disorders
Sharat Chandra, Chinmayee B Nagaraj, Miao Sun, Shanmuganathan Chandrakasan, and Kejian Zhang.
Initial Posting: September 30, 2004; Last Update: August 15, 2024.
- WDR26-Related Intellectual Disability
Cara M Skraban, Katheryn L Grand, and Matthew A Deardorff.
Initial Posting: April 25, 2019.
- WDR62 Primary Microcephaly
Alain Verloes, Lyse Ruaud, Séverine Drunat, and Sandrine Passemard.
Initial Posting: February 17, 2022.
- WFS1 Spectrum Disorder
Timothy Barrett, Lisbeth Tranebjærg, Rajat Gupta, Liam McCarthy, Nanna Dahl Rendtorff, Denise Williams, Benjamin Wright, and Renuka Dias.
Initial Posting: February 24, 2009; Last Update: December 1, 2022.
- WT1 Disorder
Beata S Lipska-Ziętkiewicz.
Initial Posting: April 30, 2020; Last Revision: April 29, 2021.
- Waardenburg Syndrome Type I
Jeff Mark Milunsky.
Initial Posting: July 30, 2001; Last Update: October 20, 2022.
- Warsaw Syndrome
Ebba Alkhunaizi, Robert M Brosh, Jr, Fowzan S Alkuraya, and David Chitayat.
Initial Posting: June 6, 2019.
- Weill-Marchesani Syndrome
Pauline Marzin, Valérie Cormier-Daire, and Ekaterini Tsilou.
Initial Posting: November 1, 2007; Last Update: December 10, 2020.
- Weiss-Kruszka Syndrome
Paul Kruszka.
Initial Posting: October 31, 2019.
- Werner Syndrome
Junko Oshima, George M Martin, and Fuki M Hisama.
Initial Posting: December 2, 2002; Last Update: May 13, 2021.
- White-Sutton Syndrome
Nurit Assia Batzir, Janson White, and V Reid Sutton.
Initial Posting: September 16, 2021.
- Wiedemann-Steiner Syndrome
Sarah E Sheppard and Fabiola Quintero-Rivera.
Initial Posting: May 26, 2022.
- Williams Syndrome
Colleen A Morris.
Initial Posting: April 9, 1999; Last Update: April 13, 2023.
- Wilms Tumor Predisposition
Joyce T Turner, Jack Brzezinski, and Jeffrey S Dome.
Initial Posting: December 19, 2003; Last Update: March 24, 2022.
- Wilson Disease
Karl Heinz Weiss and Michael Schilsky.
Initial Posting: October 22, 1999; Last Update: January 12, 2023.
- Woodhouse-Sakati Syndrome
Saeed A Bohlega and Ali Abusrair.
Initial Posting: August 4, 2016; Last Update: July 8, 2021.
X
- X-Linked Acrogigantism
Donato Iacovazzo and Márta Korbonits.
Initial Posting: February 1, 2018.
- X-Linked Adrenoleukodystrophy
Gerald V Raymond, Ann B Moser, and Ali Fatemi.
Initial Posting: March 26, 1999; Last Update: April 6, 2023.
- X-Linked Agammaglobulinemia
CI Edvard Smith and Anna Berglöf.
Initial Posting: April 5, 2001; Last Update: June 27, 2024.
- X-Linked Congenital Retinoschisis
Paul A Sieving, Ian M MacDonald, and Stephanie Hoang.
Initial Posting: October 24, 2003; Last Update: November 5, 2020.
- X-Linked Congenital Stationary Night Blindness
Ian M MacDonald, Stephanie Hoang, and Sari Tuupanen.
Initial Posting: January 16, 2008; Last Update: July 3, 2019.
- X-Linked Dystonia-Parkinsonism
Virgilio Gerald H Evidente.
Initial Posting: December 13, 2005; Last Update: February 15, 2018.
- X-Linked Hyper IgM Syndrome
Clinton P Dunn and M Teresa de la Morena.
Initial Posting: May 31, 2007; Last Update: February 20, 2020.
- X-Linked Hypophosphatemia
Michaël R Laurent, Pol Harvengt, Geert R Mortier, and Detlef Böckenhauer.
Initial Posting: February 9, 2012; Last Update: December 14, 2023.
- X-Linked Lymphoproliferative Disease
Lauren Meyer, Melissa Hines, Kejian Zhang, and Kim E Nichols.
Initial Posting: February 27, 2004; Last Update: May 16, 2024.
- X-Linked Myotubular Myopathy
James J Dowling, Michael W Lawlor, and Soma Das.
Initial Posting: February 25, 2002; Last Update: August 23, 2018.
- X-Linked Otopalatodigital Spectrum Disorders
Stephen Robertson.
Initial Posting: November 30, 2005; Last Update: October 3, 2019.
- X-Linked Protoporphyria
Manisha Balwani, Robert Desnick; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network.
Initial Posting: February 14, 2013; Last Update: November 27, 2019.
- X-Linked Severe Combined Immunodeficiency
Eric J Allenspach, David J Rawlings, Aleksandra Petrovic, and Karin Chen.
Initial Posting: August 26, 2003; Last Update: August 5, 2021.
- X-Linked Spondyloepiphyseal Dysplasia Tarda
George E Tiller.
Initial Posting: November 1, 2001; Last Revision: April 6, 2023.
- Xeroderma Pigmentosum
Kenneth H Kraemer, John J DiGiovanna, and Deborah Tamura.
Initial Posting: June 20, 2003; Last Update: March 24, 2022.
- Xia-Gibbs Syndrome
Varuna Chander, Michael Wangler, Richard Gibbs, and David Murdock.
Initial Posting: December 9, 2021.
- Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated
Rami A Ballout, Ayman W El-Hattab, Christian P Schaaf, and Sau Wai Cheung.
Initial Posting: March 10, 2016; Last Update: February 25, 2021.
Y
- Y Chromosome Infertility
Yuting Fan and Sherman J Silber.
Initial Posting: October 31, 2002; Last Update: August 1, 2019.
- YIF1B-Related Neurodevelopmental Disorder
Eva Medico-Salsench, Namik Kaya, and Tahsin Stefan Barakat.
Initial Posting: September 12, 2024.
Z
- ZAP70-Related Combined Immunodeficiency
Kelly Walkovich and Mark Vander Lugt.
Initial Posting: October 20, 2009; Last Revision: September 23, 2021.
- Zellweger Spectrum Disorder
Steven J Steinberg, Gerald V Raymond, Nancy E Braverman, and Ann B Moser.
Initial Posting: December 12, 2003; Last Update: October 29, 2020.
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