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• 1

• 1p36 Deletion Syndrome
  Agatino Battaglia and Lisa G Shaffer.
  Initial Posting: February 1, 2008.
• 1q21.1 Microdeletion
  Chad Haldeman-Englert and Tamison Jewett.
  Initial Posting: February 24, 2011.
• 15q13.3 Microdeletion
  Bregje WM van Bon, Heather C Mefford, and Bert BA de Vries.
  Initial Posting: December 23, 2010.
• 15q24 Microdeletion Syndrome
  Heather Mefford, Natasha Shur, and Jill Rosenfeld.
  Initial Posting: February 23, 2012.
• 16p11.2 Microdeletion
  David T Miller, Ramzi Nasir, Magdi M Sobeih, Yiping Shen, Bai-Lin Wu, and Ellen Hanson.
  Initial Posting: September 22, 2009; Last Revision: October 27, 2011.
• 17q21.31 Microdeletion Syndrome
  David A Koolen and Bert BA de Vries.
  Initial Posting: January 26, 2010.

• 2

• 2q37 Deletion Syndrome
  Emily S Doherty, Benjamin D Solomon, and Felicitas Lacbawan.
  Initial Posting: May 3, 2007.
• 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
  Saroj Nimkarn and Maria I New.
  Initial Posting: February 26, 2002; Last Revision: August 24, 2010.
• 22q11.2 Deletion Syndrome
  Donna M McDonald-McGinn, Beverly S Emanuel, and Elaine H Zackai.
  Initial Posting: September 23, 1999; Last Update: December 16, 2005.
• 22q11.2 Duplication
  Helen V Firth.
  Initial Posting: February 17, 2009.

• 3

• 3-M Syndrome
  Muriel Holder-Espinasse.
  Initial Posting: March 25, 2002; Last Update: January 26, 2012.
• 3-Methylglutaconic Aciduria Type 3
  Meral Gunay-Aygun, William A Gahl, and Yair Anikster.
  Initial Posting: July 28, 2006; Last Update: March 31, 2009.

• 4

• 46,XX Testicular Disorder of Sex Development
  Eric J Vilain.
  Initial Posting: October 30, 2003; Last Update: May 26, 2009.
• 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis
  Harry Ostrer.
  Initial Posting: May 21, 2008; Last Revision: September 15, 2009.

• 9

• 9q22.3 Microdeletion
  Eric Muller II and Louanne Hudgins.
  Initial Posting: August 18, 2011.

• A

• ADAMTSL4-Related Eye Disorders
  Eyvind Rødahl, Anne Elisabeth Christensen, Torunn Fiskerstrand, Per Morten Knappskog, and Helge Boman.
  Initial Posting: February 16, 2012.
• ALK-Related Neuroblastoma Susceptibility
  Rebecca H Johnson and Julie R Park.
  Initial Posting: January 5, 2010.
• ALS2-Related Disorders
  Enrico S Bertini, Eleonore Eymard-Pierre, Odile Boespflug-Tanguy, Don W Cleveland, and Koji Yamanaka.
  Initial Posting: October 21, 2005; Last Update: February 10, 2011.
• APC-Associated Polyposis Conditions
  Kory W Jasperson and Randall W Burt.
  Initial Posting: December 18, 1998; Last Update: October 27, 2011.
• ARSACS
  Yves Robitaille, Andrea Richter, Jean Mathieu, and Jean-Pierre Bouchard.
  Initial Posting: December 9, 2003; Last Update: April 11, 2007.
• ATP6V0A2-Related Cutis Laxa
  Lionel Van Maldergem, William Dobyns, and Uwe Kornak.
  Initial Posting: March 19, 2009; Last Revision: May 10, 2011.
• ATP7A-Related Copper Transport Disorders
  Stephen G Kaler.
  Initial Posting: May 9, 2003; Last Update: October 14, 2010.
• Aceruloplasminemia
  Hiroaki Miyajima.
  Initial Posting: August 12, 2003; Last Update: February 17, 2011.
• Achondrogenesis Type 1B
  Luisa Bonafé, Lauréane Mittaz Crettol, Diana Ballhausen, and Andrea Superti-Furga.
  Initial Posting: August 30, 2002; Last Update: September 22, 2009.
• Achondroplasia
  Richard M Pauli.
  Initial Posting: October 12, 1998; Last Update: February 16, 2012.
• Achromatopsia
  Susanne Kohl, Herbert Jägle, Lindsay T Sharpe, and Bernd Wissinger.
  Initial Posting: June 24, 2004; Last Revision: December 23, 2010.
• Acid Sphingomyelinase Deficiency
  Margaret M McGovern and Edward H Schuchman.
  Initial Posting: December 7, 2006; Last Update: June 25, 2009.
• Adenosine Deaminase Deficiency
  Michael Hershfield.
  Initial Posting: October 3, 2006; Last Update: December 22, 2011.
• Adult Polyglucosan Body Disease
  Christopher J Klein.
  Initial Posting: April 2, 2009; Last Revision: July 23, 2009.
• Aicardi Syndrome
  V Reid Sutton and Ignatia B Van den Veyver.
  Initial Posting: June 30, 2006; Last Update: April 27, 2010.
• Aicardi-Goutières Syndrome
  Jean Aicardi, Yanick J Crow, and John BP Stephenson.
  Initial Posting: June 29, 2005; Last Revision: March 1, 2012.
• Alagille Syndrome
  Nancy B Spinner, Anne L Hutchinson, Ian D Krantz, and Binita M Kamath.
  Initial Posting: May 19, 2000; Last Revision: July 20, 2010.
• Alexander Disease
  J Rafael Gorospe.
  Initial Posting: November 15, 2002; Last Update: April 22, 2010.
• Alkaptonuria
  Wendy J Introne, Michael A Kayser, and William A Gahl.
  Initial Posting: May 9, 2003; Last Update: March 10, 2011.
• Alpha-Mannosidosis
  Dag Malm and Øivind Nilssen.
  Initial Posting: October 11, 2001; Last Update: May 3, 2012.
• Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
  Roger E Stevenson.
  Initial Posting: June 19, 2000; Last Update: June 3, 2010.
• Alpha-Thalassemia
  Renzo Galanello and Antonio Cao.
  Initial Posting: November 1, 2005; Last Update: June 7, 2011.
• Alpha1-Antitrypsin Deficiency
  Kamilla Schlade-Bartusiak and Diane W Cox.
  Initial Posting: October 27, 2006; Last Revision: February 6, 2008.
• Alström Syndrome
  Jan D Marshall, Richard B Paisey, Catherine Carey, and Seamus Macdermott.
  Initial Posting: February 7, 2003; Last Update: June 8, 2010.
• Alzheimer Disease Overview
  Thomas D Bird.
  Initial Posting: October 23, 1998; Last Update: March 30, 2010.
• Amish Lethal Microcephaly
  Marjorie J Lindhurst and Leslie G Biesecker.
  Initial Posting: September 4, 2003; Last Update: June 16, 2011.
• Amyotrophic Lateral Sclerosis Overview
  Sandra Donkervoort and Teepu Siddique.
  Initial Posting: March 23, 2001; Last Update: July 28, 2009.
• Andersen-Tawil Syndrome
  Rabi Tawil and Shannon L Venance.
  Initial Posting: November 22, 2004; Last Update: May 13, 2010.
• Androgen Insensitivity Syndrome
  Bruce Gottlieb, Lenore K Beitel, and Mark A Trifiro.
  Initial Posting: March 24, 1999; Last Update: October 6, 2011.
• Angelman Syndrome
  Aditi I Dagli and Charles A Williams.
  Initial Posting: September 15, 1998; Last Update: June 16, 2011.
• Aniridia
  Melanie Hingorani and Anthony Moore.
  Initial Posting: May 20, 2003; Last Update: August 12, 2008.
• Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
  V Reid Sutton, Alanna F Bree, and Hans van Bokhoven.
  Initial Posting: June 8, 2010.
• Anophthalmia / Microphthalmia Overview
  Tanya Bardakjian, Avery Weiss, and Adele S Schneider.
  Initial Posting: January 29, 2004; Last Revision: February 15, 2007.
• Arginase Deficiency
  Stephen Cederbaum and Eric A Crombez.
  Initial Posting: October 21, 2004; Last Update: February 9, 2012.
• Argininosuccinate Lyase Deficiency
  Sandesh C Sreenath Nagamani, Ayelet Erez, and Brendan Lee.
  Initial Posting: February 3, 2011; Last Revision: February 2, 2012.
• Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
  Elizabeth McNally, Heather MacLeod, and Lisa Dellefave.
  Initial Posting: April 18, 2005; Last Revision: October 13, 2009.
• Arts Syndrome
  Arjan PM de Brouwer, John A Duley, and John Christodoulou.
  Initial Posting: October 21, 2008; Last Revision: March 29, 2011.
• Arylsulfatase A Deficiency
  Arvan L Fluharty.
  Initial Posting: May 30, 2006; Last Update: August 25, 2011.
• Ataxia with Oculomotor Apraxia Type 1
  Paula Coutinho and Clara Barbot.
  Initial Posting: June 11, 2002; Last Update: June 22, 2010.
• Ataxia with Oculomotor Apraxia Type 2
  Maria-Ceu Moreira and Michel Koenig.
  Initial Posting: November 15, 2004; Last Update: December 8, 2011.
• Ataxia with Vitamin E Deficiency
  Markus Schuelke.
  Initial Posting: May 20, 2005; Last Update: November 2, 2010.
• Ataxia-Telangiectasia
  Richard Gatti.
  Initial Posting: March 19, 1999; Last Update: March 11, 2010.
• Atelosteogenesis Type 2
  Luisa Bonafé, Lauréane Mittaz-Crettol, Diana Ballhausen, and Andrea Superti-Furga.
  Initial Posting: August 30, 2002; Last Update: October 1, 2009.
• Atypical Hemolytic-Uremic Syndrome
  Marina Noris, Elena Bresin, Caterina Mele, Giuseppe Remuzzi, and Jessica Caprioli.
  Initial Posting: November 16, 2007; Last Update: March 10, 2011.
• Autism Spectrum Disorders
  Judith H Miles, Rebecca B McCathren, Janine Stichter, and Marwan Shinawi.
  Initial Posting: August 27, 2003; Last Update: April 13, 2010.
• Autoimmune Lymphoproliferative Syndrome
  Jack JH Bleesing, Judith Johnson, and Kejian Zhang.
  Initial Posting: September 14, 2006; Last Update: September 8, 2011.
• Autosomal Dominant Hyper IgE Syndrome
  Alexandra F Freeman, Joie Davis, Amy P Hsu, Steven M Holland, and Jennifer M Puck.
  Initial Posting: February 23, 2010.
• Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
  Shinichi Hirose and Hirokazu Kurahashi.
  Initial Posting: May 16, 2002; Last Update: April 5, 2010.
• Autosomal Dominant Partial Epilepsy with Auditory Features
  Ruth Ottman.
  Initial Posting: April 20, 2007; Last Update: July 13, 2010.
• Autosomal Recessive Congenital Ichthyosis
  Gabriele Richard and Sherri J Bale.
  Initial Posting: January 10, 2001; Last Update: April 19, 2012.

• B

• BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer
  Nancie Petrucelli, Mary B Daly, and Gerald L Feldman.
  Initial Posting: September 4, 1998; Last Update: January 20, 2011.
• BSCL2-Related Neurologic Disorders/Seipinopathy
  Daisuke Ito.
  Initial Posting: December 6, 2005; Last Update: September 15, 2011.
• Baller-Gerold Syndrome
  Lionel Van Maldergem.
  Initial Posting: August 13, 2007; Last Update: June 7, 2011.
• Bardet-Biedl Syndrome
  Aoife M Waters and Philip L Beales.
  Initial Posting: July 14, 2003; Last Revision: September 29, 2011.
• Beckwith-Wiedemann Syndrome
  Cheryl Shuman, J Bruce Beckwith, Adam C Smith, and Rosanna Weksberg.
  Initial Posting: March 3, 2000; Last Update: December 14, 2010.
• Benign Familial Neonatal Seizures
  Giulia Bellini, Francesco Miceli, Maria Virginia Soldovieri, Emanuele Miraglia del Giudice, Antonio Pascotto, and Maurizio Taglialatela.
  Initial Posting: April 27, 2010; Last Revision: August 4, 2011.
• Berardinelli-Seip Congenital Lipodystrophy
  Lionel Van Maldergem.
  Initial Posting: September 8, 2003; Last Update: February 23, 2010.
• Best Vitelliform Macular Dystrophy
  Ian M MacDonald and Thomas Lee.
  Initial Posting: September 30, 2003; Last Update: April 7, 2009.
• Beta-Thalassemia
  Antonio Cao and Renzo Galanello.
  Initial Posting: September 28, 2000; Last Update: June 17, 2010.
• Bietti Crystalline Dystrophy
  Krystle A Okialda, Niamh B Stover, Richard G Weleber, and Edward J Kelly.
  Initial Posting: April 12, 2012.
• Biotinidase Deficiency
  Barry Wolf.
  Initial Posting: March 24, 2000; Last Update: March 15, 2011.
• Birt-Hogg-Dubé Syndrome
  Jorge R Toro.
  Initial Posting: February 27, 2006; Last Update: September 9, 2008.
• Blepharophimosis, Ptosis, and Epicanthus Inversus
  Elfride De Baere.
  Initial Posting: July 8, 2004; Last Update: November 12, 2009.
• Bloom's Syndrome
  Maureen M Sanz and James German.
  Initial Posting: March 22, 2006; Last Update: August 24, 2010.
• Branchiooculofacial Syndrome
  Angela E Lin and Jeff M Milunsky.
  Initial Posting: May 31, 2011.
• Branchiootorenal Spectrum Disorders
  Richard JH Smith.
  Initial Posting: March 19, 1999; Last Update: August 27, 2009.
• Brugada Syndrome
  Ramon Brugada, Oscar Campuzano, Pedro Brugada, Josep Brugada, and Kui Hong.
  Initial Posting: March 31, 2005; Last Revision: January 12, 2012.

• C

• CADASIL
  Saskia AJ Lesnik Oberstein, Elles MJ Boon, and Martin Dichgans.
  Initial Posting: March 15, 2000; Last Update: July 23, 2009.
• CARASIL
  Osamu Onodera, Hiroaki Nozaki, and Toshio Fukutake.
  Initial Posting: April 27, 2010; Last Revision: February 17, 2011.
• CATSPER-Related Male Infertility
  Michael S Hildebrand, Matthew R Avenarius, and Richard JH Smith.
  Initial Posting: December 3, 2009.
• CDC73-Related Disorders
  Thereasa A Rich, Mimi I Hu, Jack W Martin, Nancy D Perrier, and Steven G Waguespack.
  Initial Posting: December 31, 2008; Last Update: May 24, 2012.
• CFTR-Related Disorders
  Samuel M Moskowitz, James F Chmiel, Darci L Sternen, Edith Cheng, and Garry R Cutting.
  Initial Posting: March 26, 2001; Last Update: February 19, 2008.
• CHARGE Syndrome
  Seema R Lalani, Margaret A Hefner, John W Belmont, and Sandra LH Davenport.
  Initial Posting: October 2, 2006; Last Update: February 2, 2012.
• CHMP2B-Related Frontotemporal Dementia
  Ida E Holm, Jeremy M Brown, and Adrian M Isaacs.
  Initial Posting: August 23, 2007.
• CHST3-Related Skeletal Dysplasia
  Andrea Superti-Furga and Sheila Unger.
  Initial Posting: September 1, 2011.
• CLCN7-Related Osteopetrosis
  Ansgar Schulz and Uwe Kornak.
  Initial Posting: February 12, 2007; Last Update: October 14, 2010.
• COL4A1-Related Disorders
  Emmanuelle Plaisier and Pierre Ronco.
  Initial Posting: June 25, 2009; Last Update: March 8, 2011.
• Calpainopathy
  Corrado Angelini and Marina Fanin.
  Initial Posting: May 10, 2005; Last Revision: July 8, 2010.
• Campomelic Dysplasia
  Sheila Unger, Gerd Scherer, and Andrea Superti-Furga.
  Initial Posting: July 31, 2008.
• Camurati-Engelmann Disease
  Stephanie E Wallace and William R Wilcox.
  Initial Posting: June 25, 2004; Last Update: June 1, 2010.
• Canavan Disease
  Reuben Matalon and Kimberlee Michals-Matalon.
  Initial Posting: September 16, 1999; Last Update: August 11, 2011.
• Cardiofaciocutaneous Syndrome
  Katherine A Rauen.
  Initial Posting: January 18, 2007; Last Update: December 23, 2010.
• Carney Complex
  Constantine A Stratakis and Anelia Horvath.
  Initial Posting: February 5, 2003; Last Update: June 22, 2010.
• Carnitine Palmitoyltransferase 1A Deficiency
  Michael J Bennett, Srinivas B Narayan, and Avni B Santani.
  Initial Posting: July 27, 2005; Last Update: September 7, 2010.
• Carnitine Palmitoyltransferase II Deficiency
  Thomas Wieser.
  Initial Posting: August 27, 2004; Last Update: October 6, 2011.
• Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders
  Christian T Thiel.
  Initial Posting: March 15, 2012.
• Catecholaminergic Polymorphic Ventricular Tachycardia
  Carlo Napolitano, Silvia G Priori, and Raffaella Bloise.
  Initial Posting: October 14, 2004; Last Update: February 16, 2012.
• Caveolinopathies
  Claudio Bruno, Federica Sotgia, Elisabetta Gazzerro, Carlo Minetti, and Michael P Lisanti.
  Initial Posting: May 14, 2007.
• Celiac Disease
  Cara L Snyder, Danielle O Young, Peter HR Green, and Annette K Taylor.
  Initial Posting: July 3, 2008.
• Central Core Disease
  May Christine V Malicdan and Ichizo Nishino.
  Initial Posting: May 16, 2007; Last Update: May 11, 2010.
• Cerebral Cavernous Malformation, Familial
  Leslie Morrison and Amy Akers.
  Initial Posting: February 24, 2003; Last Update: May 31, 2011.
• Cerebrotendinous Xanthomatosis
  Antonio Federico, Maria Teresa Dotti, and Gian Nicola Gallus.
  Initial Posting: July 16, 2003; Last Revision: October 20, 2011.
• Char Syndrome
  Bruce D Gelb.
  Initial Posting: August 15, 2003; Last Update: March 19, 2008.
• Charcot-Marie-Tooth Hereditary Neuropathy Overview
  Thomas D Bird.
  Initial Posting: September 28, 1998; Last Revision: February 9, 2012.
• Charcot-Marie-Tooth Neuropathy Type 1
  Thomas D Bird.
  Initial Posting: August 31, 1998; Last Revision: August 18, 2011.
• Charcot-Marie-Tooth Neuropathy Type 2
  Thomas D Bird.
  Initial Posting: September 24, 1998; Last Revision: February 9, 2012.
• Charcot-Marie-Tooth Neuropathy Type 2A
  Stephan Züchner.
  Initial Posting: February 18, 2005; Last Revision: June 10, 2010.
• Charcot-Marie-Tooth Neuropathy Type 2E/1F
  Peter De Jonghe and Albena K Jordanova.
  Initial Posting: April 1, 2004; Last Update: October 27, 2011.
• Charcot-Marie-Tooth Neuropathy Type 4
  Thomas D Bird.
  Initial Posting: September 24, 1998; Last Revision: May 27, 2010.
• Charcot-Marie-Tooth Neuropathy Type 4A
  Stephan Züchner and Jeffery M Vance.
  Initial Posting: May 11, 2004; Last Update: June 3, 2010.
• Charcot-Marie-Tooth Neuropathy Type 4C
  Hamid Azzedine, Luc Bontoux, and Eric LeGuern.
  Initial Posting: March 31, 2008; Last Revision: July 6, 2010.
• Charcot-Marie-Tooth Neuropathy X Type 1
  Thomas D Bird.
  Initial Posting: June 18, 1998; Last Revision: March 29, 2011.
• Charcot-Marie-Tooth Neuropathy X Type 5
  Jong-Won Kim and Hee-Jin Kim.
  Initial Posting: August 26, 2008; Last Revision: January 18, 2011.
• Chediak-Higashi Syndrome
  Wendy J Introne, Wendy Westbroek, Gretchen A Golas, and David Adams.
  Initial Posting: March 3, 2009; Last Update: February 16, 2012.
• Cherubism
  Berivan Baskin, Sarah Bowdin , and Peter N Ray.
  Initial Posting: February 26, 2007; Last Update: September 1, 2011.
• Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
  Raphael Schiffmann, Anne Fogli, Marjo S Van der Knaap, and Odile Boespflug-Tanguy.
  Initial Posting: February 20, 2003; Last Update: May 24, 2012.
• Chondrodysplasia Punctata 1, X-Linked
  Nancy E Braverman, Michael Bober, Nicola Brunetti-Pierri, and Gretchen L Oswald.
  Initial Posting: April 22, 2008; Last Update: November 3, 2011.
• Chondrodysplasia Punctata 2, X-Linked
  Melissa A Dempsey, Christopher Tan, and Gail E Herman.
  Initial Posting: May 31, 2011.
• Chorea-Acanthocytosis
  Carol Dobson-Stone, Luca Rampoldi, Benedikt Bader, Antonio Velayos Baeza, Ruth H Walker, Adrian Danek, and Anthony P Monaco.
  Initial Posting: June 14, 2002; Last Revision: August 18, 2011.
• Choroideremia
  Ian M MacDonald, Nizar Smaoui, and Miguel C Seabra.
  Initial Posting: February 21, 2003; Last Update: June 3, 2010.
• Citrin Deficiency
  Keiko Kobayashi, Takeyori Saheki, and Yuan-Zong Song.
  Initial Posting: September 16, 2005; Last Update: January 5, 2012.
• Citrullinemia Type I
  Jess G Thoene.
  Initial Posting: July 7, 2004; Last Update: August 11, 2011.
• Cleidocranial Dysplasia
  Roberto Mendoza-Londono and Brendan Lee.
  Initial Posting: January 3, 2006; Last Update: June 25, 2009.
• Cockayne Syndrome
  Edward G Neilan.
  Initial Posting: December 28, 2000; Last Update: March 7, 2006.
• Coffin-Lowry Syndrome
  Alasdair GW Hunter and Fatima E Abidi.
  Initial Posting: July 16, 2002; Last Update: January 15, 2009.
• Cohen Syndrome
  Marni J Falk, Heng Wang, and Elias I Traboulsi.
  Initial Posting: August 29, 2006; Last Update: March 10, 2011.
• Cold-Induced Sweating Syndrome including Crisponi Syndrome
  Angelika F Hahn and Helge Boman.
  Initial Posting: March 3, 2011.
• Collagen IV-Related Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy)
  Clifford E Kashtan.
  Initial Posting: August 28, 2001; Last Update: July 15, 2010.
• Collagen Type VI-Related Disorders
  Anne Katrin Lampe, Kevin M Flanigan, and Katharine Mary Bushby.
  Initial Posting: June 25, 2004; Last Update: April 6, 2007.
• Common Variable Immune Deficiency Overview
  Andrew M Scharenberg, Mark C Hannibal, Troy Torgerson, Hans D Ochs, and David J Rawlings.
  Initial Posting: July 5, 2006.
• Congenital Cataracts, Facial Dysmorphism, and Neuropathy
  Luba Kalaydjieva.
  Initial Posting: March 2, 2010.
• Congenital Central Hypoventilation Syndrome
  Debra E Weese-Mayer, Mary L Marazita, Elizabeth M Berry-Kravis, and Pallavi P Patwari.
  Initial Posting: January 28, 2004; Last Update: November 10, 2011.
• Congenital Contractural Arachnodactyly
  Maurice Godfrey.
  Initial Posting: January 23, 2001; Last Update: February 23, 2012.
• Congenital Diaphragmatic Hernia Overview
  Barbara R Pober, Meaghan K Russell, and Kate Guernsey Ackerman.
  Initial Posting: February 1, 2006; Last Update: March 16, 2010.
• Congenital Disorders of Glycosylation Overview
  Susan E Sparks and Donna M Krasnewich.
  Initial Posting: August 15, 2005; Last Revision: August 11, 2011.
• Congenital Dyserythropoietic Anemia Type I
  Hannah Tamary and Orly Dgany.
  Initial Posting: April 21, 2009; Last Update: September 1, 2011.
• Congenital Fiber-Type Disproportion
  Elizabeth Taylor DeChene, Peter B Kang, and Alan H Beggs.
  Initial Posting: January 12, 2007; Last Revision: October 23, 2008.
• Congenital Fibrosis of the Extraocular Muscles
  Caroline V Andrews, David G Hunter, and Elizabeth C Engle.
  Initial Posting: April 27, 2004; Last Revision: December 29, 2011.
• Congenital Hepatic Fibrosis Overview
  Meral Gunay-Aygun, William A Gahl, and Theo Heller.
  Initial Posting: December 9, 2008.
• Congenital Muscular Dystrophy Overview
  Susan Sparks, Susana Quijano-Roy, Amy Harper, Anne Rutkowski, Erynn Gordon, Eric P Hoffman, and Elena Pegoraro.
  Initial Posting: January 22, 2001; Last Revision: May 24, 2012.
• Congenital Myasthenic Syndromes
  Angela Abicht, Juliane Müller S, and Hanns Lochmüller.
  Initial Posting: May 9, 2003; Last Update: March 22, 2012.
• Congenital Stromal Corneal Dystrophy
  Eyvind Rødahl, Per M Knappskog, Cecilie Bredrup, and Helge Boman.
  Initial Posting: November 25, 2008; Last Update: February 2, 2012.
• Cornelia de Lange Syndrome
  Matthew A Deardorff, Dinah M Clark, and Ian D Krantz.
  Initial Posting: September 16, 2005; Last Update: October 27, 2011.
• Costello Syndrome
  Karen W Gripp and Angela E Lin.
  Initial Posting: August 29, 2006; Last Update: January 12, 2012.
• Craniofacial Microsomia Overview
  Carrie L Heike and Anne V Hing.
  Initial Posting: March 19, 2009.
• Craniometaphyseal Dysplasia, Autosomal Dominant
  Ernst Reichenberger and I-Ping Chen.
  Initial Posting: August 27, 2007; Last Update: November 2, 2010.
• Creatine Deficiency Syndromes
  Saadet Mercimek-Mahmutoglu, Sylvia Stöckler-Ipsiroglu, and Gajja S Salomons.
  Initial Posting: January 15, 2009; Last Update: August 18, 2011.
• Cystinosis
  Galina Nesterova and William A Gahl.
  Initial Posting: March 22, 2001; Last Revision: May 17, 2012.
• Cytochrome P450 Oxidoreductase Deficiency
  Deborah Cragun and Robert J Hopkin.
  Initial Posting: September 8, 2005; Last Update: August 18, 2009.

• D

• DCX-Related Disorders
  Ute Hehr, Goekhan Uyanik , Ludwig Aigner, Sebastien Couillard-Despres, and Juergen Winkler.
  Initial Posting: October 19, 2007; Last Update: March 24, 2011.
• DFNA2 Nonsyndromic Hearing Loss
  Richard JH Smith and Michael Hildebrand.
  Initial Posting: April 4, 2008; Last Update: February 17, 2011.
• DFNX1 Nonsyndromic Hearing Loss and Deafness
  Huijun Yuan   and Xue Z Liu  
  Initial Posting: August 4, 2011.
• DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form
  Fernando Scaglia, David Dimmock, and Lee-Jun Wong.
  Initial Posting: June 18, 2009.
• DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy
  Stephan Züchner.
  Initial Posting: July 8, 2010.
• DNMT1-Related Dementia, Deafness, and Sensory Neuropathy
  Christopher J Klein.
  Initial Posting: February 16, 2012; Last Revision: May 17, 2012.
• DRPLA
  Shoji Tsuji.
  Initial Posting: August 6, 1999; Last Update: June 1, 2010.
• Deafness and Hereditary Hearing Loss Overview
  Richard JH Smith, A Eliot Shearer, Michael S Hildebrand, and Guy Van Camp.
  Initial Posting: February 14, 1999; Last Revision: January 5, 2012.
• Deafness-Dystonia-Optic Neuronopathy Syndrome
  Lisbeth Tranebjærg.
  Initial Posting: February 6, 2003; Last Revision: March 24, 2009.
• Dense Deposit Disease/Membranoproliferative Glomerulonephritis Type II
  Johnny Cruz Corchado and Richard JH Smith.
  Initial Posting: July 20, 2007; Last Update: May 19, 2011.
• Diabetes Mellitus, 6q24-Related Transient Neonatal
  Isabel Karen Temple and Deborah JG Mackay.
  Initial Posting: October 10, 2005; Last Revision: December 23, 2010.
• Diamond-Blackfan Anemia
  Catherine Clinton and Hanna T Gazda.
  Initial Posting: June 25, 2009; Last Update: January 27, 2011.
• Diastrophic Dysplasia
  Luisa Bonafé and Andrea Superti-Furga.
  Initial Posting: November 15, 2004; Last Update: June 12, 2007.
• Dilated Cardiomyopathy Overview
  Ray E Hershberger, Jessica D Kushner, and Sharie B Parks.
  Initial Posting: July 27, 2007; Last Revision: March 19, 2009.
• Disorders of Intracellular Cobalamin Metabolism
  David Adams and Charles P Venditti.
  Initial Posting: February 25, 2008; Last Revision: August 11, 2009.
• Donnai-Barrow Syndrome
  Sibel Kantarci, Dian Donnai, Kristin M Noonan, and Barbara R Pober.
  Initial Posting: August 28, 2008; Last Update: June 28, 2011.
• Dopamine Beta-Hydroxylase Deficiency
  David Robertson and Emily M Garland.
  Initial Posting: September 4, 2003; Last Update: September 16, 2010.
• Duane Syndrome
  Caroline V Andrews, David G Hunter, and Elizabeth C Engle.
  Initial Posting: May 25, 2007; Last Update: February 18, 2010.
• Dysferlinopathy
  Masashi Aoki.
  Initial Posting: February 5, 2004; Last Update: April 22, 2010.
• Dyskeratosis Congenita
  Sharon A Savage.
  Initial Posting: November 12, 2009; Last Update: May 10, 2012.
• Dystonia Overview
  Andrea H Nemeth.
  Initial Posting: October 28, 2003; Last Update: January 23, 2006.
• Dystrophic Epidermolysis Bullosa
  Ellen G Pfendner and Anne W Lucky.
  Initial Posting: August 21, 2006; Last Update: November 4, 2010.
• Dystrophinopathies
  Basil T Darras, David T Miller, and David K Urion.
  Initial Posting: September 5, 2000; Last Update: November 23, 2011.

• E

• EFEMP2-Related Cutis Laxa
  Bart Loeys, Anne De Paepe, and Zsolt Urban.
  Initial Posting: May 12, 2011.
• ELANE-Related Neutropenia
  David C Dale.
  Initial Posting: June 17, 2002; Last Update: July 14, 2011.
• Early-Onset Familial Alzheimer Disease
  Thomas D Bird.
  Initial Posting: September 24, 1999; Last Update: December 23, 2010.
• Early-Onset Primary Dystonia (DYT1)
  Deborah Raymond and Susan B Bressman.
  Initial Posting: April 14, 1999; Last Revision: November 23, 2010.
• Ehlers-Danlos Syndrome, Classic Type
  Fransiska Malfait, Richard Wenstrup, and Anne De Paepe.
  Initial Posting: May 29, 2007; Last Update: August 18, 2011.
• Ehlers-Danlos Syndrome, Hypermobility Type
  Howard P Levy.
  Initial Posting: October 22, 2004; Last Revision: December 14, 2010.
• Ehlers-Danlos Syndrome, Kyphoscoliotic Form
  Heather N Yeowell and Beat Steinmann.
  Initial Posting: February 2, 2000; Last Update: February 19, 2008.
• Ehlers-Danlos Syndrome Type IV
  Melanie G Pepin and Peter H Byers.
  Initial Posting: September 2, 1999; Last Update: May 3, 2011.
• Emanuel Syndrome
  Livija Medne, Elaine H Zackai, and Beverly S Emanuel.
  Initial Posting: April 20, 2007; Last Update: May 11, 2010.
• Emery-Dreifuss Muscular Dystrophy
  Gisèle Bonne, France Leturcq, and Rabah Ben Yaou.
  Initial Posting: September 29, 2004; Last Revision: August 24, 2010.
• Enlarged Parietal Foramina/Cranium Bifidum
  Andrew OM Wilkie and Lampros A Mavrogiannis.
  Initial Posting: March 30, 2004; Last Update: March 30, 2010.
• Epidermolysis Bullosa Simplex
  Ellen G Pfendner and Anna L Bruckner.
  Initial Posting: October 7, 1998; Last Update: September 1, 2011.
• Epidermolysis Bullosa with Pyloric Atresia
  Ellen G Pfendner and Anne W Lucky.
  Initial Posting: February 22, 2008; Last Revision: April 28, 2009.
• Epimerase Deficiency Galactosemia
  Judith Fridovich-Keil, Lora Bean, Miao He, and Richard Schroer.
  Initial Posting: January 25, 2011.
• Episodic Ataxia Type 1
  Mauro Pessia and Michael G Hanna.
  Initial Posting: February 9, 2010.
• Episodic Ataxia Type 2
  Sian Spacey.
  Initial Posting: February 24, 2003; Last Update: December 8, 2011.
• Esophageal Atresia/Tracheoesophageal Fistula Overview
  Daryl A Scott.
  Initial Posting: March 12, 2009.

• F

• FBLN5-Related Cutis Laxa
  Lionel Van Maldergem and Bart Loeys.
  Initial Posting: March 19, 2009; Last Update: October 13, 2011.
• FGFR-Related Craniosynostosis Syndromes
  Nathaniel H Robin, Marni J Falk, and Chad R Haldeman-Englert.
  Initial Posting: October 20, 1998; Last Update: June 7, 2011.
• FLNB-Related Disorders
  Stephen Robertson.
  Initial Posting: October 9, 2008.
• FMR1-Related Disorders
  Robert A Saul and Jack C Tarleton.
  Initial Posting: June 16, 1998; Last Revision: April 26, 2012.
• FRMD7-Related Infantile Nystagmus
  Mervyn G Thomas, Shery Thomas, Anil Kumar, Frank A Proudlock, and Irene Gottlob.
  Initial Posting: February 12, 2009; Last Update: September 29, 2011.
• Fabry Disease
  Atul Mehta and Derralynn A Hughes.
  Initial Posting: August 5, 2002; Last Update: March 10, 2011.
• Facioscapulohumeral Muscular Dystrophy
  Richard JLF Lemmers and Silvere M van der Maarel.
  Initial Posting: March 8, 1999; Last Update: July 9, 2009.
• Factor V Leiden Thrombophilia
  Jody L Kujovich.
  Initial Posting: May 14, 1999; Last Update: March 9, 2010.
• Familial Acute Myeloid Leukemia (AML) with Mutated CEBPA
  Roger D Klein and Guido Marcucci.
  Initial Posting: October 21, 2010.
• Familial Dysautonomia
  Mordechai Shohat and Gabrielle J Halpern.
  Initial Posting: January 21, 2003; Last Update: June 1, 2010.
• Familial Exudative Vitreoretinopathy, Autosomal Dominant
  Carmel Toomes and Louise Downey.
  Initial Posting: March 21, 2005; Last Revision: September 22, 2011.
• Familial Hemiplegic Migraine
  Joanna C Jen.
  Initial Posting: July 17, 2001; Last Update: September 8, 2009.
• Familial Hyperinsulinism
  Benjamin Glaser.
  Initial Posting: August 19, 2003; Last Revision: June 15, 2010.
• Familial Hypertrophic Cardiomyopathy Overview
  Allison L Cirino and Carolyn Ho.
  Initial Posting: August 5, 2008; Last Revision: May 17, 2011.
• Familial Idiopathic Basal Ganglia Calcification
  Maria J Sobrido, Suellen Hopfer, and Daniel H Geschwind.
  Initial Posting: April 18, 2004; Last Update: September 20, 2007.
• Familial Juvenile Hyperuricemic Nephropathy Type 2
  Stanislav Kmoch, Martina Živná, and Anthony J Bleyer.
  Initial Posting: April 5, 2011.
• Familial Lipoprotein Lipase Deficiency
  John D Brunzell.
  Initial Posting: October 12, 1999; Last Update: December 15, 2011.
• Familial Mediterranean Fever
  Mordechai Shohat and Gabrielle J Halpern.
  Initial Posting: August 8, 2000; Last Update: April 26, 2012.
• Familial Mosaic Monosomy 7 Syndrome
  Jennifer JD Morrissette, Jean-Pierre de Chadarévian, and E Anders Kolb.
  Initial Posting: July 8, 2010.
• Familial Paroxysmal Kinesigenic Dyskinesia
  Sian Spacey and Paul Adams.
  Initial Posting: June 24, 2005; Last Revision: March 15, 2012.
• Familial Paroxysmal Nonkinesigenic Dyskinesia
  Sian Spacey and Paul Adams.
  Initial Posting: June 24, 2005; Last Update: May 3, 2011.
• Familial Transthyretin Amyloidosis
  Yoshiki Sekijima, Kunihiro Yoshida, Takahiko Tokuda, and Shu-ichi Ikeda.
  Initial Posting: November 5, 2001; Last Update: January 26, 2012.
• Fanconi Anemia
  Blanche P Alter and Gary Kupfer.
  Initial Posting: February 14, 2002; Last Revision: November 3, 2011.
• Fatty Acid Hydroxylase-Associated Neurodegeneration
  Michael Kruer, Allison Gregory, and Susan J Hayflick.
  Initial Posting: June 28, 2011; Last Revision: September 29, 2011.
• Feingold Syndrome
  Carlo LM Marcelis and Arjan PM de Brouwer.
  Initial Posting: June 30, 2009.
• Focal Dermal Hypoplasia
  V Reid Sutton and Ignatia B Van den Veyver.
  Initial Posting: May 15, 2008.
• Free Sialic Acid Storage Disorders
  David Adams and William A Gahl.
  Initial Posting: June 13, 2003; Last Update: July 3, 2008.
• Friedreich Ataxia
  Sanjay I Bidichandani and Martin B Delatycki.
  Initial Posting: December 18, 1998; Last Update: February 2, 2012.
• Fryns Syndrome
  Anne Slavotinek.
  Initial Posting: April 18, 2007; Last Update: June 1, 2010.
• Fukuyama Congenital Muscular Dystrophy
  Kayoko Saito.
  Initial Posting: January 26, 2006; Last Update: May 10, 2012.
• Fumarate Hydratase Deficiency
  Vivian E Shih and Roseann Mandell.
  Initial Posting: July 5, 2006; Last Update: June 2, 2009.

• G

• GARS-Associated Axonal Neuropathy
  Lev G Goldfarb and Kumaraswamy Sivakumar.
  Initial Posting: November 8, 2006; Last Update: August 25, 2011.
• GATA1-Related X-Linked Cytopenia
  Melissa A Kacena, Stella T Chou, Mitchell J Weiss, and Wendy H Raskind.
  Initial Posting: November 22, 2006; Last Update: March 22, 2011.
• GRN-Related Frontotemporal Dementia
  Ging-Yuek Robin Hsiung and Howard H Feldman.
  Initial Posting: September 7, 2007.
• GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
  Yoshiaki Furukawa.
  Initial Posting: February 21, 2002; Last Revision: May 3, 2012.
• Galactosemia
  Louis J Elsas II.
  Initial Posting: February 4, 2000; Last Update: October 26, 2010.
• Gaucher Disease
  Gregory M Pastores and Derralynn A Hughes.
  Initial Posting: July 27, 2000; Last Revision: July 21, 2011.
• Geleophysic Dysplasia
  Carine Le Goff and Valerie Cormier-Daire.
  Initial Posting: September 22, 2009; Last Update: April 19, 2012.
• Genetic Prion Diseases
  James A Mastrianni.
  Initial Posting: March 27, 2003; Last Revision: September 7, 2010.
• Giant Axonal Neuropathy
  Gregor Kuhlenbäumer and Vincent Timmerman.
  Initial Posting: January 9, 2003; Last Revision: August 11, 2009.
• Glucose Transporter Type 1 Deficiency Syndrome
  Dong Wang , Juan M Pascual , and Darryl De Vivo.
  Initial Posting: July 30, 2002; Last Update: July 7, 2009.
• Glycine Encephalopathy
  Ada Hamosh, Gunter Scharer, and Johan Van Hove.
  Initial Posting: November 14, 2002; Last Update: November 24, 2009.
• Glycogen Storage Disease Type I
  Deeksha S Bali, Yuan-Tsong Chen, and Jennifer L Goldstein.
  Initial Posting: April 19, 2006; Last Update: December 23, 2010.
• Glycogen Storage Disease Type II (Pompe Disease)
  Brad T Tinkle and Nancy Leslie.
  Initial Posting: August 31, 2007; Last Update: August 12, 2010.
• Glycogen Storage Disease Type III
  Aditi Dagli, Christiaan P Sentner, and David A Weinstein.
  Initial Posting: March 9, 2010; Last Revision: March 15, 2011.
• Glycogen Storage Disease Type V
  Joaquin Arenas, Miguel A Martín, and Antonio L Andreu.
  Initial Posting: April 19, 2006; Last Update: May 12, 2009.
• Glycogen Storage Disease Type VI
  Aditi I Dagli and David A Weinstein.
  Initial Posting: April 23, 2009; Last Update: May 17, 2011.
• Greig Cephalopolysyndactyly Syndrome
  Leslie G Biesecker.
  Initial Posting: July 9, 2001; Last Update: April 30, 2009.

• H

• HFE-Associated Hereditary Hemochromatosis
  Kris V Kowdley, Robin L Bennett, and Arno G Motulsky.
  Initial Posting: April 3, 2000; Last Update: April 19, 2012.
• Hand-Foot-Genital Syndrome
  Jeffrey W Innis.
  Initial Posting: July 11, 2006; Last Update: May 3, 2012.
• Hemophagocytic Lymphohistiocytosis, Familial
  Kejian Zhang, Alexandra H Filipovich, Judith Johnson, Rebecca A Marsh, and Joyce Villanueva.
  Initial Posting: March 22, 2006; Last Revision: September 7, 2010.
• Hemophilia A
  Barbara A Konkle, Neil C Josephson, Shelley M Nakaya Fletcher, and Arthur R Thompson.
  Initial Posting: September 21, 2000; Last Update: September 22, 2011.
• Hemophilia B
  Barbara A Konkle, Neil C Josephson, Shelley M Nakaya Fletcher, and Arthur R Thompson.
  Initial Posting: October 2, 2000; Last Update: September 22, 2011.
• Hepatic Veno-Occlusive Disease with Immunodeficiency
  Tony Roscioli, John B Ziegler, Michael Buckley, and Melanie Wong.
  Initial Posting: February 21, 2007; Last Update: September 15, 2009.
• Hereditary Ataxia Overview
  Thomas D Bird.
  Initial Posting: October 28, 1998; Last Revision: April 26, 2012.
• Hereditary Diffuse Gastric Cancer
  Pardeep Kaurah and David G Huntsman.
  Initial Posting: November 4, 2002; Last Update: June 21, 2011.
• Hereditary Folate Malabsorption
  Ndeye Diop-Bove, David Kronn, and I David Goldman.
  Initial Posting: June 17, 2008; Last Update: December 8, 2011.
• Hereditary Hemorrhagic Telangiectasia
  Jamie McDonald and Reed E Pyeritz.
  Initial Posting: June 26, 2000; Last Update: January 5, 2012.
• Hereditary Leiomyomatosis and Renal Cell Cancer
  Manop Pithukpakorn and Jorge R Toro.
  Initial Posting: July 31, 2006; Last Update: November 2, 2010.
• Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
  Nicolas Dupré, Heidi C Howard, and Guy A Rouleau.
  Initial Posting: February 2, 2006; Last Update: June 18, 2009.
• Hereditary Multiple Osteochondromas
  Gregory A Schmale, Wim Wuyts, Howard A Chansky, and Wendy H Raskind.
  Initial Posting: August 3, 2000; Last Update: September 5, 2008.
• Hereditary Neuralgic Amyotrophy
  Mark C Hannibal, Nens van Alfen, Phillip F Chance, and Baziel GM van Engelen.
  Initial Posting: February 27, 2008.
• Hereditary Neuropathy with Liability to Pressure Palsies
  Thomas D Bird.
  Initial Posting: September 28, 1998; Last Update: May 11, 2010.
• Hereditary Paraganglioma-Pheochromocytoma Syndromes
  Roger D Klein, Ricardo V Lloyd, and William F Young.
  Initial Posting: May 21, 2008; Last Revision: September 3, 2009.
• Hereditary Sensory and Autonomic Neuropathy IV
  Felicia B Axelrod, Gabrielle Gold-von Simson, and Carole Oddoux.
  Initial Posting: August 5, 2008; Last Revision: November 24, 2009.
• Hereditary Sensory and Autonomic Neuropathy Type II
  Ingo Kurth.
  Initial Posting: November 23, 2010; Last Revision: November 3, 2011.
• Hereditary Sensory Neuropathy Type IA
  Garth A Nicholson.
  Initial Posting: September 23, 2002; Last Revision: May 3, 2012.
• Hereditary Spastic Paraplegia Overview
  John K Fink.
  Initial Posting: August 15, 2000; Last Revision: February 3, 2009.
• Heritable Pulmonary Arterial Hypertension
  James E Loyd and John A Phillips III.
  Initial Posting: July 18, 2002; Last Update: March 29, 2011.
• Hermansky-Pudlak Syndrome
  William A Gahl.
  Initial Posting: July 24, 2000; Last Revision: July 8, 2010.
• Hexosaminidase A Deficiency
  Michael M Kaback and Robert J Desnick.
  Initial Posting: March 11, 1999; Last Update: August 11, 2011.
• Hidrotic Ectodermal Dysplasia 2
  Vazken M Der Kaloustian.
  Initial Posting: April 25, 2005; Last Update: February 3, 2011.
• Hirschsprung Disease Overview
  Melissa A Parisi.
  Initial Posting: July 12, 2002; Last Revision: November 10, 2011.
• Holoprosencephaly Overview
  Benjamin D Solomon, Andrea Gropman, and Maximilian Muenke.
  Initial Posting: December 27, 2000; Last Revision: November 3, 2011.
• Holt-Oram Syndrome
  Deborah A McDermott, MS, CGC, Jamie C Fong, and Craig T Basson.
  Initial Posting: July 20, 2004; Last Update: January 4, 2011.
• Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
  Jonathan D Picker and Harvey L Levy.
  Initial Posting: January 15, 2004; Last Update: April 26, 2011.
• Huntington Disease
  Simon C Warby, Rona K Graham, and Michael R Hayden.
  Initial Posting: October 23, 1998; Last Update: April 22, 2010.
• Huntington Disease-Like 2
  Russell L Margolis.
  Initial Posting: January 30, 2004; Last Update: April 26, 2012.
• Hutchinson-Gilford Progeria Syndrome
  Leslie B Gordon, W Ted Brown, and Francis S Collins.
  Initial Posting: December 12, 2003; Last Update: January 6, 2011.
• Hyalinosis, Inherited Systemic
  Joseph TC Shieh, H Eugene Hoyme, and Laura T Arbour.
  Initial Posting: February 27, 2008.
• Hydroxymethylbilane Synthase Deficiency
  Stig Thunell.
  Initial Posting: September 27, 2005; Last Revision: September 1, 2011.
• Hyperekplexia
  Marina AJ de Koning-Tijssen and Mark I Rees.
  Initial Posting: July 31, 2007; Last Revision: May 19, 2009.
• Hyperkalemic Periodic Paralysis Type 1
  Karin Jurkat-Rott and Frank Lehmann-Horn.
  Initial Posting: July 18, 2003; Last Update: May 31, 2011.
• Hypochondroplasia
  Clair A Francomano.
  Initial Posting: July 15, 1999; Last Update: December 12, 2005.
• Hypohidrotic Ectodermal Dysplasia
  J Timothy Wright, Dorothy K Grange, and Mary K Richter.
  Initial Posting: April 28, 2003; Last Update: December 29, 2011.
• Hypokalemic Periodic Paralysis
  Damien Sternberg, Nacira Tabti, Bernard Hainque, and Bertrand Fontaine.
  Initial Posting: April 30, 2002; Last Update: April 28, 2009.
• Hypomyelination and Congenital Cataract
  Roberta Biancheri, Federico Zara, Claudio Bruno, Elisabetta Gazzerro, Andrea Rossi, Marjo S Van der Knaap, and Carlo Minetti.
  Initial Posting: October 14, 2008; Last Revision: October 27, 2011.
• Hypophosphatasia
  Etienne Mornet and Mark E Nunes.
  Initial Posting: November 20, 2007; Last Revision: November 10, 2011.

• I

• IPEX Syndrome
  Mark C Hannibal and Troy Torgerson.
  Initial Posting: October 19, 2004; Last Update: January 27, 2011.
• IRF6-Related Disorders
  Kate M Durda, Brian C Schutte, and Jeffrey C Murray.
  Initial Posting: October 30, 2003; Last Update: March 1, 2011.
• Inclusion Body Myopathy 2
  Erin O’Ferrall and Michael Sinnreich.
  Initial Posting: March 26, 2004; Last Update: August 6, 2009.
• Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia
  Virginia Kimonis, Sandra Donkervoort, and Giles Watts.
  Initial Posting: May 25, 2007; Last Update: July 28, 2011.
• Incontinentia Pigmenti
  Angela Scheuerle and Matilde Valeria Ursini.
  Initial Posting: June 8, 1999; Last Update: October 28, 2010.
• Infantile-Onset Spinocerebellar Ataxia
  Kaisu Nikali and Tuula Lönnqvist.
  Initial Posting: January 27, 2009; Last Update: July 22, 2010.
• Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency Overview
  J Carl Pallais, Margaret Au, Nelly Pitteloud, Stephanie Seminara, and William F Crowley Jr.
  Initial Posting: May 23, 2007; Last Update: October 14, 2010.

• J

• Jervell and Lange-Nielsen Syndrome
  Lisbeth Tranebjaerg, Ricardo A Samson, and Glenn Edward Green.
  Initial Posting: July 29, 2002; Last Update: February 23, 2010.
• Joubert Syndrome and Related Disorders
  Melissa Parisi and Ian Glass.
  Initial Posting: July 9, 2003; Last Revision: May 24, 2012.
• Junctional Epidermolysis Bullosa
  Ellen G Pfendner and Anne W Lucky.
  Initial Posting: February 22, 2008.
• Juvenile Hereditary Hemochromatosis
  Y Paul Goldberg.
  Initial Posting: February 17, 2005; Last Update: August 11, 2011.
• Juvenile Polyposis Syndrome
  Joy Larsen Haidle and James R Howe.
  Initial Posting: May 13, 2003; Last Update: September 29, 2011.

• K

• Kabuki Syndrome
  Margaret P Adam, Louanne Hudgins, and Mark Hannibal.
  Initial Posting: September 1, 2011.
• Kallmann Syndrome
  J Carl Pallais, Margaret Au, Nelly Pitteloud, Stephanie Seminara, and William F Crowley Jr.
  Initial Posting: May 23, 2007; Last Revision: August 18, 2011.
• Kleefstra Syndrome
  Tjitske Kleefstra, Willy M Nillesen, and Helger G Yntema.
  Initial Posting: October 5, 2010.
• Krabbe Disease
  David A Wenger.
  Initial Posting: June 19, 2000; Last Update: March 31, 2011.

• L

• L1 Syndrome
  Connie Schrander-Stumpel and Yvonne J Vos.
  Initial Posting: April 28, 2004; Last Update: December 23, 2010.
• LEOPARD Syndrome
  Bruce D Gelb and Marco Tartaglia.
  Initial Posting: November 30, 2007; Last Update: November 16, 2010.
• LIS1-Associated Lissencephaly/Subcortical Band Heterotopia
  William B Dobyns and Soma Das.
  Initial Posting: March 3, 2009.
• LMNA-Related Dilated Cardiomyopathy
  Ray E Hershberger.
  Initial Posting: June 12, 2008; Last Update: April 5, 2011.
• LRRK2-Related Parkinson Disease
  Matthew Farrer and Owen A Ross.
  Initial Posting: November 2, 2006; Last Update: April 29, 2010.
• Laing Distal Myopathy
  Phillipa Lamont, William Wallefeld, and Nigel G Laing.
  Initial Posting: October 17, 2006; Last Update: June 17, 2010.
• Leber Congenital Amaurosis
  Richard G Weleber, Peter J Francis, and Karmen M Trzupek.
  Initial Posting: July 7, 2004; Last Update: March 30, 2010.
• Leber Hereditary Optic Neuropathy
  Patrick Yu-Wai-Man and Patrick F Chinnery.
  Initial Posting: October 26, 2000; Last Revision: April 19, 2012.
• Legius Syndrome
  David Stevenson, David Viskochil, Rong Mao, and Talia Muram-Zborovski.
  Initial Posting: October 14, 2010; Last Revision: May 12, 2011.
• Lenz Microphthalmia Syndrome
  David Ng.
  Initial Posting: June 4, 2002; Last Update: April 27, 2010.
• Lesch-Nyhan Syndrome
  William L Nyhan, J Patrick O'Neill, Hyder A Jinnah, and James C Harris.
  Initial Posting: September 25, 2000; Last Update: June 10, 2010.
• Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
  Marjo S Van der Knaap and Gert C Scheper.
  Initial Posting: May 25, 2010.
• Li-Fraumeni Syndrome
  Katherine Schneider and Judy Garber.
  Initial Posting: January 19, 1999; Last Update: February 9, 2010.
• Limb-Girdle Muscular Dystrophy Overview
  Erynn Gordon, Elena Pegoraro, and Eric P Hoffman.
  Initial Posting: June 8, 2000; Last Revision: July 23, 2009.
• Loeys-Dietz Syndrome
  Bart L Loeys and Harry C Dietz.
  Initial Posting: February 28, 2008; Last Revision: April 29, 2008.
• Low γ-GT Familial Intrahepatic Cholestasis
  Alexander S Knisely, Laura Bull, and Benjamin L Shneider.
  Initial Posting: October 15, 2001; Last Revision: August 13, 2008.
• Lowe Syndrome
  Richard Alan Lewis, Robert L Nussbaum, and Eileen D Brewer.
  Initial Posting: July 24, 2001; Last Update: February 23, 2012.
• Lymphedema-Distichiasis Syndrome
  Sahar Mansour, Glen W Brice, Steve Jeffery, and Peter Mortimer.
  Initial Posting: March 29, 2005; Last Update: May 24, 2012.
• Lymphoproliferative Disease, X-Linked
  Alexandra Filipovich, Judith Johnson, Kejian Zhang, and Rebecca Marsh.
  Initial Posting: February 27, 2004; Last Update: November 10, 2011.
• Lynch Syndrome
  Wendy Kohlmann and Stephen B Gruber.
  Initial Posting: February 5, 2004; Last Update: August 11, 2011.
• Lysinuric Protein Intolerance
  Gianfranco Sebastio and Virginia Nunes.
  Initial Posting: December 21, 2006; Last Revision: October 13, 2011.

• M

• MAPT-Related Disorders
  John C van Swieten, Sonia M Rosso, and Peter Heutink.
  Initial Posting: November 7, 2000; Last Update: October 26, 2010.
• MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
  Melissa A Dempsey, Alexandra M Dumitrescu, and Samuel Refetoff.
  Initial Posting: March 9, 2010.
• MECP2 Duplication Syndrome
  Hilde Van Esch.
  Initial Posting: January 18, 2008; Last Update: June 24, 2010.
• MECP2-Related Disorders
  John Christodoulou and Gladys Ho.
  Initial Posting: October 3, 2001; Last Update: April 2, 2009.
• MED12-Related Disorders
  Michael J Lyons.
  Initial Posting: June 23, 2008; Last Revision: July 14, 2009.
• MELAS
  Salvatore DiMauro and Michio Hirano.
  Initial Posting: February 27, 2001; Last Update: October 14, 2010.
• MERRF
  Salvatore DiMauro and Michio Hirano.
  Initial Posting: June 3, 2003; Last Update: August 18, 2009.
• MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome
  Ayman W El-Hattab, Fernando Scaglia, William J Craigen , and Lee-Jun C Wong.
  Initial Posting: May 17, 2012.
• MYH9-Related Disorders
  Anna Savoia and Carlo L Balduini.
  Initial Posting: November 20, 2008; Last Update: April 5, 2011.
• Majeed Syndrome
  Hasan A Majeed and Hatem El-Shanti.
  Initial Posting: September 23, 2008.
• Malignant Hyperthermia Susceptibility
  Henry Rosenberg, Nyamkhishig Sambuughin, and Robert Dirksen.
  Initial Posting: December 19, 2003; Last Update: January 19, 2010.
• Manitoba Oculotrichoanal Syndrome
  Chumei Li, Anne Slavotinek, and Albert E Chudley.
  Initial Posting: July 9, 2008; Last Update: October 13, 2011.
• Maple Syrup Urine Disease
  Kevin A Strauss, Erik G Puffenberger, and D Holmes Morton.
  Initial Posting: January 30, 2006; Last Update: December 15, 2009.
• Marfan Syndrome
  Harry C Dietz.
  Initial Posting: April 18, 2001; Last Update: December 1, 2011.
• Marinesco-Sjögren Syndrome
  Anna-Kaisa Anttonen and Anna-Elina Lehesjoki.
  Initial Posting: November 29, 2006; Last Update: September 7, 2010.
• McKusick-Kaufman Syndrome
  Anne M Slavotinek.
  Initial Posting: September 10, 2002; Last Update: June 29, 2010.
• McLeod Neuroacanthocytosis Syndrome
  Hans H Jung, Adrian Danek, Ruth H Walker, Beat M Frey, and Christoph Gassner.
  Initial Posting: December 3, 2004; Last Update: May 17, 2012.
• Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
  Dietrich Matern and Piero Rinaldo.
  Initial Posting: April 20, 2000; Last Update: January 19, 2012.
• Megalencephalic Leukoencephalopathy with Subcortical Cysts
  Marjo S van der Knaap and Gert C Scheper.
  Initial Posting: August 11, 2003; Last Update: November 3, 2011.
• Methylmalonic Acidemia
  Irini Manoli and Charles P Venditti.
  Initial Posting: August 16, 2005; Last Update: September 28, 2010.
• Microphthalmia with Linear Skin Defects Syndrome
  Manuela Morleo and Brunella Franco.
  Initial Posting: June 18, 2009; Last Update: August 18, 2011.
• Milroy Disease
  Glen W Brice, Sahar Mansour, Pia Ostergaard, Fiona Connell, Steve Jeffery, and Peter Mortimer.
  Initial Posting: April 27, 2006; Last Update: July 23, 2009.
• Mitochondrial DNA Deletion Syndromes
  Salvatore DiMauro and Michio Hirano.
  Initial Posting: December 17, 2003; Last Update: May 3, 2011.
• Mitochondrial DNA-Associated Leigh Syndrome and NARP
  David R Thorburn and Shamima Rahman.
  Initial Posting: October 30, 2003; Last Revision: May 3, 2011.
• Mitochondrial Disorders Overview
  Patrick F Chinnery.
  Initial Posting: June 8, 2000; Last Update: September 16, 2010.
• Mitochondrial Neurogastrointestinal Encephalopathy Disease
  John M Shoffner.
  Initial Posting: April 22, 2005; Last Update: May 11, 2010.
• Mowat-Wilson Syndrome
  Margaret P Adam, Lora J H Bean, and Vanessa Rangel Miller.
  Initial Posting: March 28, 2007; Last Update: February 11, 2008.
• Mucolipidosis II
  Jules G Leroy, Sara Cathey, and Michael J Friez.
  Initial Posting: August 26, 2008; Last Update: May 10, 2012.
• Mucolipidosis III Alpha/Beta
  Jules G Leroy, Sara S Cathey, and Michael J Friez.
  Initial Posting: August 26, 2008; Last Update: May 10, 2012.
• Mucolipidosis III Gamma
  Annick Raas-Rothschild and Ronen Spiegel.
  Initial Posting: January 28, 2010; Last Revision: September 29, 2011.
• Mucolipidosis IV
  Raphael Schiffmann, Susan A Slaugenhaupt, Janine Smith, and Ehud Goldin.
  Initial Posting: January 28, 2005; Last Update: July 20, 2010.
• Mucopolysaccharidosis Type I
  Lorne A Clarke and Jonathan Heppner.
  Initial Posting: October 31, 2002; Last Update: July 21, 2011.
• Mucopolysaccharidosis Type II
  Maurizio Scarpa.
  Initial Posting: November 6, 2007; Last Update: February 22, 2011.
• Muenke Syndrome
  Nneamaka B Agochukwu, Emily S Doherty, and Maximilian Muenke.
  Initial Posting: May 10, 2006; Last Update: December 7, 2010.
• Multiminicore Disease
  Alan H Beggs and Pankaj B Agrawal.
  Initial Posting: March 25, 2003; Last Update: April 10, 2008.
• Multiple Cutaneous and Mucosal Venous Malformations
  Laurence M Boon and Miikka Vikkula.
  Initial Posting: September 18, 2008.
• Multiple Endocrine Neoplasia Type 1
  Alberto Falchetti, Francesca Marini, and Maria Luisa Brandi.
  Initial Posting: August 31, 2005; Last Update: March 2, 2010.
• Multiple Endocrine Neoplasia Type 2
  Jessica Moline and Charis Eng.
  Initial Posting: September 27, 1999; Last Update: May 4, 2010.
• Multiple Epiphyseal Dysplasia, Dominant
  Michael D Briggs, Michael J Wright, and Geert R Mortier.
  Initial Posting: January 8, 2003; Last Update: February 1, 2011.
• Multiple Epiphyseal Dysplasia, Recessive
  Luisa Bonafé, Lauréane Mittaz-Crettol, Diana Ballhausen, and Andrea Superti-Furga.
  Initial Posting: August 29, 2002; Last Update: March 18, 2010.
• Multiple Sclerosis Overview
  Olaf Stüve and Jorge Oksenberg.
  Initial Posting: January 10, 2006; Last Update: May 11, 2010.
• Myoclonus-Dystonia
  Deborah Raymond and Laurie Ozelius.
  Initial Posting: May 21, 2003; Last Update: January 26, 2012.
• Myofibrillar Myopathy
  Duygu Selcen and Andrew G Engel.
  Initial Posting: January 28, 2005; Last Revision: July 27, 2010.
• Myopathy with Deficiency of ISCU
  Fanny Mochel and Ronald G Haller.
  Initial Posting: March 31, 2009; Last Update: September 1, 2011.
• Myostatin-Related Muscle Hypertrophy
  Kathryn R Wagner.
  Initial Posting: October 5, 2005; Last Update: April 30, 2009.
• Myotonia Congenita
  Morten Dunø and Eskild Colding-Jørgensen.
  Initial Posting: August 3, 2005; Last Update: April 12, 2011.
• Myotonic Dystrophy Type 1
  Thomas D Bird.
  Initial Posting: September 17, 1999; Last Update: February 8, 2011.
• Myotonic Dystrophy Type 2
  Joline C Dalton, Laura PW Ranum, and John W Day.
  Initial Posting: September 21, 2006; Last Update: April 23, 2007.

• N

• NDP-Related Retinopathies
  Katherine B Sims.
  Initial Posting: July 30, 1999; Last Update: July 23, 2009.
• NSDHL-Related Disorders
  Christèle du Souich, F Lucy Raymond, Karl-Heinz Grzeschik, Arne König, and Cornelius F Boerkoel.
  Initial Posting: February 1, 2011; Last Revision: February 16, 2012.
• Nail-Patella Syndrome
  Elizabeth Sweeney, Julie E Hoover-Fong, and Iain McIntosh.
  Initial Posting: May 31, 2003; Last Update: July 28, 2009.
• Nemaline Myopathy
  Kathryn North and Monique M Ryan.
  Initial Posting: June 19, 2002; Last Update: March 15, 2012.
• Nephrogenic Diabetes Insipidus
  Nine Knoers.
  Initial Posting: February 12, 2000; Last Update: March 4, 2010.
• Neuroferritinopathy
  Patrick F Chinnery.
  Initial Posting: April 25, 2005; Last Update: December 23, 2010.
• Neurofibromatosis 1
  JM Friedman.
  Initial Posting: October 2, 1998; Last Update: May 3, 2012.
• Neurofibromatosis 2
  D Gareth Evans.
  Initial Posting: October 14, 1998; Last Update: August 18, 2011.
• Neuronal Ceroid-Lipofuscinoses
  Sara E Mole and Ruth E Williams.
  Initial Posting: October 10, 2001; Last Update: March 2, 2010.
• Nevoid Basal Cell Carcinoma Syndrome
  D Gareth Evans and Peter A Farndon.
  Initial Posting: June 20, 2002; Last Revision: November 3, 2011.
• Niemann-Pick Disease Type C
  Marc Patterson.
  Initial Posting: January 26, 2000; Last Update: July 22, 2008.
• Nijmegen Breakage Syndrome
  Patrick Concannon and Richard Gatti.
  Initial Posting: May 17, 1999; Last Update: March 1, 2011.
• Nonsyndromic Hearing Loss and Deafness, DFNA3
  Richard JH Smith, Abraham M Sheffield, and Guy Van Camp.
  Initial Posting: September 28, 1998; Last Update: April 19, 2012.
• Nonsyndromic Hearing Loss and Deafness, DFNB1
  Richard JH Smith and Guy Van Camp.
  Initial Posting: September 28, 1998; Last Update: July 14, 2011.
• Nonsyndromic Hearing Loss and Deafness, Mitochondrial
  Arti Pandya.
  Initial Posting: October 22, 2004; Last Update: April 21, 2011.
• Noonan Syndrome
  Judith E Allanson and Amy E Roberts.
  Initial Posting: November 15, 2001; Last Update: August 4, 2011.

• O

• OTOF-Related Deafness
  Richard JH Smith, Jose G Gurrola II, and Philip M Kelley.
  Initial Posting: February 29, 2008; Last Revision: June 14, 2011.
• Ocular Albinism, X-Linked
  Richard Alan Lewis.
  Initial Posting: March 12, 2004; Last Update: April 5, 2011.
• Oculocutaneous Albinism Type 1
  Richard A King.
  Initial Posting: January 19, 2000; Last Update: October 1, 2004.
• Oculocutaneous Albinism Type 2
  Richard A King and William S Oetting.
  Initial Posting: July 17, 2003; Last Revision: June 20, 2007.
• Oculocutaneous Albinism Type 4
  Tamio Suzuki and Masahiro Hayashi.
  Initial Posting: November 17, 2005; Last Revision: September 15, 2011.
• Oculopharyngeal Muscular Dystrophy
  Bernard Brais and Guy A Rouleau.
  Initial Posting: March 8, 2001; Last Update: June 22, 2006.
• Optic Atrophy Type 1
  Cécile Delettre-Cribaillet, Christian P Hamel, and Guy Lenaers.
  Initial Posting: July 13, 2007; Last Update: July 20, 2010.
• Oral-Facial-Digital Syndrome Type I
  Helga V Toriello and Brunella Franco.
  Initial Posting: July 24, 2002; Last Update: October 14, 2010.
• Osteogenesis Imperfecta
  Robert D Steiner, Melanie G Pepin, and Peter H Byers.
  Initial Posting: January 28, 2005.
• Otopalatodigital Spectrum Disorders
  Stephen Robertson.
  Initial Posting: November 30, 2005; Last Revision: April 28, 2009.

• P

• PINK1 Type of Young-Onset Parkinson Disease
  Susanne A Schneider and Christine Klein.
  Initial Posting: March 16, 2010.
• PLA2G6-Associated Neurodegeneration
  Allison Gregory, Manju A Kurian, Eamonn R Maher, Penelope Hogarth, and Susan J Hayflick.
  Initial Posting: June 19, 2008; Last Update: April 19, 2012.
• PLP1-Related Disorders
  James Y Garbern and Grace M Hobson.
  Initial Posting: June 15, 1999; Last Update: March 16, 2010.
• PMM2-CDG (CDG-Ia)
  Susan E Sparks and Donna M Krasnewich.
  Initial Posting: August 15, 2005; Last Update: April 21, 2011.
• POLG-Related Disorders
  Bruce H Cohen, Patrick F Chinnery, and William C Copeland.
  Initial Posting: March 16, 2010.
• PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia
  Mark H Fox and Alexander G Bassuk.
  Initial Posting: September 8, 2009; Last Update: December 8, 2011.
• PROP1-Related Combined Pituitary Hormone Deficiency
  Laura CG de Graaff.
  Initial Posting: December 7, 2000; Last Update: October 6, 2011.
• PRSS1-Related Hereditary Pancreatitis
  Sheila Solomon, David C Whitcomb, and Jessica LaRusch.
  Initial Posting: March 1, 2012.
• PTEN Hamartoma Tumor Syndrome (PHTS)
  Charis Eng.
  Initial Posting: November 29, 2001; Last Revision: April 19, 2012.
• Pachyonychia Congenita
  Frances JD Smith, C David Hansen, Peter R Hull, Sancy A Leachman, Roger L Kaspar, Mary E Schwartz, WH Irwin McLean, Leonard M Milstone, and Eli Sprecher.
  Initial Posting: January 27, 2006; Last Update: December 1, 2011.
• Pallister-Hall Syndrome
  Leslie G Biesecker.
  Initial Posting: May 25, 2000; Last Revision: June 15, 2010.
• Pantothenate Kinase-Associated Neurodegeneration
  Allison Gregory and Susan J Hayflick.
  Initial Posting: August 13, 2002; Last Update: March 23, 2010.
• Parkin Type of Juvenile Parkinson Disease
  Alexis Brice, Alexandra Dürr, and Christoph Lücking.
  Initial Posting: April 17, 2001; Last Update: October 1, 2007.
• Parkinson Disease Overview
  Nathan D Pankratz, Joanne Wojcieszek, and Tatiana Foroud.
  Initial Posting: May 25, 2004; Last Revision: July 9, 2009.
• Pendred Syndrome/DFNB4
  Fatemeh Alasti, Guy Van Camp, and Richard JH Smith.
  Initial Posting: September 28, 1998; Last Update: December 22, 2011.
• Permanent Neonatal Diabetes Mellitus
  Diva D De León and Charles A Stanley.
  Initial Posting: February 8, 2008; Last Update: July 5, 2011.
• Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
  Steven J Steinberg, Gerald V Raymond, Nancy E Braverman, and Ann B Moser.
  Initial Posting: December 12, 2003; Last Revision: May 10, 2012.
• Perry Syndrome
  Zbigniew Wszolek and Christian Wider.
  Initial Posting: September 30, 2010.
• Peters Plus Syndrome
  Gudrun Aubertin, Marjolein Kriek, and Saskia AJ Lesnik Oberstein.
  Initial Posting: October 8, 2007; Last Update: February 17, 2011.
• Peutz-Jeghers Syndrome
  Christopher I Amos, Marsha L Frazier, Chongjuan Wei, and Thomas J McGarrity.
  Initial Posting: February 23, 2001; Last Update: February 22, 2011.
• Phelan-McDermid Syndrome
  Katy Phelan and Curtis Rogers.
  Initial Posting: May 11, 2005; Last Update: August 25, 2011.
• Phenylalanine Hydroxylase Deficiency
  John J Mitchell and Charles R Scriver.
  Initial Posting: January 10, 2000; Last Update: May 4, 2010.
• Phosphoribosylpyrophosphate Synthetase Superactivity
  Michael A Becker.
  Initial Posting: September 23, 2008; Last Revision: January 11, 2011.
• Phosphorylase Kinase Deficiency
  Jennifer Goldstein, Stephanie Austin, Priya Kishnani, and Deeksha Bali.
  Initial Posting: May 31, 2011.
• Polycystic Kidney Disease, Autosomal Dominant
  Peter C Harris and Vicente E Torres.
  Initial Posting: January 10, 2002; Last Update: December 8, 2011.
• Polycystic Kidney Disease, Autosomal Recessive
  Katherine MacRae Dell and Ellis D Avner.
  Initial Posting: July 19, 2001; Last Update: September 22, 2011.
• Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL)
  Juha Paloneva, Taina Autti, Panu Hakola, and Matti J Haltia.
  Initial Posting: January 24, 2002; Last Update: August 26, 2010.
• Polymicrogyria Overview
  Bernard Chang, Christopher A Walsh, Kira Apse, and Adria Bodell.
  Initial Posting: April 18, 2005; Last Update: August 6, 2007.
• Pontocerebellar Hypoplasia Type 2 and Type 4
  Yasmin Namavar, Peter G Barth, and Frank Baas.
  Initial Posting: September 8, 2009; Last Revision: September 22, 2009.
• Prader-Willi Syndrome
  Suzanne B Cassidy and Stuart Schwartz.
  Initial Posting: October 6, 1998; Last Revision: September 3, 2009.
• Primary Autosomal Recessive Microcephaly
  Sandrine Passemard, Angela M Kaindl, Luigi Titomanlio, Benedicte Gerard, Pierre Gressens, and Alain Verloes.
  Initial Posting: September 1, 2009.
• Primary Ciliary Dyskinesia
  Maimoona A Zariwala, Michael R Knowles, and Margaret W Leigh.
  Initial Posting: January 24, 2007; Last Revision: March 8, 2012.
• Primary Congenital Glaucoma
  Khaled K Abu-Amero and Deepak P Edward.
  Initial Posting: September 30, 2004; Last Revision: August 25, 2011.
• Primary Hyperoxaluria Type 1
  Marion B Coulter-Mackie, Colin T White, R Morrison Hurley, Ben H Chew, and Dirk Lange.
  Initial Posting: June 19, 2002; Last Update: November 17, 2011.
• Primary Hyperoxaluria Type 2
  Gill Rumsby.
  Initial Posting: December 2, 2008; Last Update: May 5, 2011.
• Progressive Myoclonus Epilepsy, Lafora Type
  Anna C Jansen and Eva Andermann.
  Initial Posting: December 28, 2007; Last Update: November 3, 2011.
• Propionic Acidemia
  Nuria Carrillo-Carrasco and Charles Venditti.
  Initial Posting: May 17, 2012.
• Prothrombin-Related Thrombophilia
  Jody L Kujovich.
  Initial Posting: July 25, 2006; Last Update: March 29, 2011.
• Pseudoachondroplasia
  Daniel H Cohn.
  Initial Posting: August 20, 2004; Last Update: April 13, 2010.
• Pseudohypoaldosteronism Type II
  Frederick H Wilson and Kristopher T Kahle.
  Initial Posting: November 10, 2011.
• Pseudoxanthoma Elasticum
  Sharon F Terry and Lionel Bercovitch.
  Initial Posting: June 5, 2001; Last Revision: April 2, 2007.
• Pulmonary Fibrosis, Familial
  Janet L Talbert and David A Schwartz.
  Initial Posting: January 21, 2005; Last Update: October 19, 2010.
• Pyridoxine-Dependent Epilepsy
  Sidney M Gospe Jr.
  Initial Posting: December 7, 2001; Last Revision: April 26, 2012.
• Pyruvate Carboxylase Deficiency
  Dong Wang and Darryl De Vivo.
  Initial Posting: June 2, 2009; Last Update: July 21, 2011.

• R

• RASA1-Related Disorders
  Pinar Bayrak-Toydemir and David Stevenson.
  Initial Posting: February 22, 2011.
• ROR2-Related Robinow Syndrome
  Carlos Bacino.
  Initial Posting: July 28, 2005; Last Update: August 25, 2011.
• Rapid-Onset Dystonia-Parkinsonism
  Allison Brashear, Kathleen Sweadner, and Laurie Ozelius.
  Initial Posting: February 7, 2008; Last Update: August 25, 2011.
• Red-Green Color Vision Defects
  Samir S Deeb and Arno G Motulsky.
  Initial Posting: September 19, 2005; Last Update: September 29, 2011.
• Refsum Disease
  Ronald JA Wanders, Hans R Waterham, and Bart P Leroy.
  Initial Posting: March 20, 2006; Last Update: April 22, 2010.
• Renal Coloboma Syndrome
  Lisa A Schimmenti and Michael R Eccles.
  Initial Posting: June 8, 2007.
• Retinitis Pigmentosa Overview
  Roberta A Pagon and Stephen P Daiger.
  Initial Posting: August 4, 2000; Last Update: September 16, 2005.
• Retinoblastoma
  Dietmar R Lohmann and Brenda L Gallie.
  Initial Posting: July 18, 2000; Last Update: June 10, 2010.
• Rhizomelic Chondrodysplasia Punctata Type 1
  Nancy E Braverman, Ann B Moser, and Steven J Steinberg.
  Initial Posting: November 16, 2001; Last Update: March 2, 2010.
• Roberts Syndrome
  Miriam Gordillo, Hugo Vega, and Ethylin Wang Jabs.
  Initial Posting: April 18, 2006; Last Revision: April 14, 2009.
• Romano-Ward Syndrome
  G Michael Vincent.
  Initial Posting: February 20, 2003; Last Revision: August 4, 2009.
• Rothmund-Thomson Syndrome
  Lisa L Wang and Sharon E Plon.
  Initial Posting: October 6, 1999; Last Update: April 7, 2009.
• Rubinstein-Taybi Syndrome
  Cathy A Stevens.
  Initial Posting: August 30, 2002; Last Revision: August 20, 2009.
• Russell-Silver Syndrome
  Howard M Saal.
  Initial Posting: November 2, 2002; Last Update: June 2, 2011.

• S

• SALL4-Related Disorders
  Jürgen Kohlhase.
  Initial Posting: August 16, 2004; Last Update: March 12, 2008.
• SCN1A-Related Seizure Disorders
  Ian O Miller and Marcio A Sotero de Menezes.
  Initial Posting: November 29, 2007; Last Update: November 10, 2011.
• SCN9A-Related Inherited Erythromelalgia
  Fuki M Hisama, Sulayman D Dib-Hajj, and Stephen G Waxman.
  Initial Posting: May 6, 2006; Last Revision: September 25, 2008.
• SHOX-Related Haploinsufficiency Disorders
  Craig Munns and Ian Glass.
  Initial Posting: December 12, 2005; Last Revision: February 1, 2008.
• SOST-Related Sclerosing Bone Dysplasias
  Peter H Beighton, Herman Hamersma, and Mary E Brunkow.
  Initial Posting: June 4, 2002; Last Update: January 12, 2012.
• SOX2-Related Eye Disorders
  David R FitzPatrick.
  Initial Posting: February 23, 2006; Last Update: August 25, 2009.
• SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria
  Elsebet Ostergaard.
  Initial Posting: May 26, 2009.
• SYNE1-Related Autosomal Recessive Cerebellar Ataxia
  Nicolas Dupré, François Gros-Louis, Jean-Pierre Bouchard, Anne Noreau, and Guy A Rouleau.
  Initial Posting: February 23, 2007; Last Revision: October 13, 2011.
• Saethre-Chotzen Syndrome
  Emily R Gallagher, Chootima Ratisoontorn, and Michael L Cunningham.
  Initial Posting: May 16, 2003; Last Update: June 21, 2011.
• Salih Myopathy
  Virginie Carmignac, Tiina Suominen, Peter Hackman, Bjarne Udd, and Mustafa A Salih.
  Initial Posting: January 12, 2012.
• Schimke Immunoosseous Dysplasia
  Alireza Baradaran-Heravi, Marie Morimoto, Thomas Lücke, and Cornelius F Boerkoel.
  Initial Posting: October 1, 2002; Last Revision: December 29, 2011.
• Short-Chain Acyl-CoA Dehydrogenase Deficiency
  Lynne Wolfe, Reena Jethva, Devin Oglesbee, and Jerry Vockley.
  Initial Posting: September 22, 2011.
• Shprintzen-Goldberg Syndrome
  Marie T Greally.
  Initial Posting: January 13, 2006; Last Update: November 16, 2010.
• Shwachman-Diamond Syndrome
  Johanna M Rommens and Peter R Durie.
  Initial Posting: July 17, 2008.
• Sialuria
  Jules G Leroy.
  Initial Posting: January 14, 2004; Last Update: March 2, 2010.
• Sickle Cell Disease
  MA Bender and William Hobbs.
  Initial Posting: September 15, 2003; Last Revision: May 17, 2012.
• Simpson-Golabi-Behmel Syndrome Type 1
  Mahin Golabi, Alva Leung, and Christina Lopez.
  Initial Posting: December 19, 2006; Last Update: June 23, 2011.
• Smith-Lemli-Opitz Syndrome
  Mira Irons.
  Initial Posting: November 13, 1998; Last Update: October 24, 2007.
• Smith-Magenis Syndrome
  Ann CM Smith, Kerry Boyd, Sarah H Elsea, Brenda M Finucane, Barbara Haas-Givler, Andrea Gropman, Kyle P Johnson, James R Lupski, Ellen Magenis, Lorraine Potocki, and Beth Solomon.
  Initial Posting: October 22, 2001; Last Update: January 7, 2010.
• Sotos Syndrome
  Katrina Tatton-Brown, Trevor RP Cole, and Nazneen Rahman.
  Initial Posting: December 17, 2004; Last Update: March 8, 2012.
• Spastic Paraplegia 3A
  Peter Hedera.
  Initial Posting: September 21, 2010; Last Revision: February 9, 2012.
• Spastic Paraplegia 7
  Giorgio Casari and Roberto Marconi.
  Initial Posting: August 24, 2006; Last Update: December 23, 2010.
• Spastic Paraplegia 8
  Paul N Valdmanis, Inge A Meijer, and Guy A Rouleau.
  Initial Posting: August 13, 2008; Last Update: May 28, 2008.
• Spastic Paraplegia Type 4
  Alexandra Dürr, Chantal Tallaksen, and Christel Depienne.
  Initial Posting: April 17, 2003; Last Update: June 18, 2009.
• Spastic Paraplegia Type 11
  Giovanni Stevanin, Alexandra Dürr, and Alexis Brice.
  Initial Posting: March 27, 2008; Last Revision: September 3, 2009.
• Spinal and Bulbar Muscular Atrophy
  Albert La Spada.
  Initial Posting: February 26, 1999; Last Update: October 13, 2011.
• Spinal Muscular Atrophy
  Thomas W Prior and Barry S Russman.
  Initial Posting: February 24, 2000; Last Update: January 27, 2011.
• Spinal Muscular Atrophy, X-Linked Infantile
  Lisa Baumbach Reardon, Stephanie Sacharow, and Mary Ellen Ahearn.
  Initial Posting: October 30, 2008.
• Spinocerebellar Ataxia Type 1
  SH Subramony and Tetsuo Ashizawa.
  Initial Posting: October 1, 1998; Last Update: October 20, 2011.
• Spinocerebellar Ataxia Type 2
  Stefan-M Pulst.
  Initial Posting: October 23, 1998; Last Update: October 5, 2010.
• Spinocerebellar Ataxia Type 3
  Henry Paulson.
  Initial Posting: October 10, 1998; Last Update: March 17, 2011.
• Spinocerebellar Ataxia Type 6
  Christopher M Gomez.
  Initial Posting: October 23, 1998; Last Update: June 16, 2008.
• Spinocerebellar Ataxia Type 7
  Thomas D Bird, Roberta A Pagon, and Albert R La Spada.
  Initial Posting: August 27, 1998; Last Update: September 6, 2007.
• Spinocerebellar Ataxia Type 8
  Yoshio Ikeda, Joline C Dalton, John W Day, and Laura PW Ranum.
  Initial Posting: November 27, 2001; Last Update: February 7, 2007.
• Spinocerebellar Ataxia Type 10
  Tohru Matsuura and Tetsuo Ashizawa.
  Initial Posting: April 23, 2002; Last Update: March 9, 2010.
• Spinocerebellar Ataxia Type 11
  Henry Houlden.
  Initial Posting: July 22, 2008.
• Spinocerebellar Ataxia Type 12
  Russell L Margolis, Elizabeth O'Hearn, Susan E Holmes, Achal K Srivastava, Mitali Mukherji, and KK Sinha.
  Initial Posting: October 1, 2004; Last Update: November 17, 2011.
• Spinocerebellar Ataxia Type 13
  Stefan-M Pulst.
  Initial Posting: November 9, 2006; Last Update: March 1, 2012.
• Spinocerebellar Ataxia Type 14
  Dong-Hui Chen, Thomas D Bird, and Wendy H Raskind.
  Initial Posting: January 28, 2005; Last Update: March 23, 2010.
• Spinocerebellar Ataxia Type 15
  Elsdon Storey.
  Initial Posting: May 30, 2006; Last Revision: April 21, 2011.
• Spinocerebellar Ataxia Type 17
  Yasuko Toyoshima, Osamu Onodera, Mitsunori Yamada, Shoji Tsuji, and Hitoshi Takahashi.
  Initial Posting: March 29, 2005; Last Update: May 17, 2012.
• Spinocerebellar Ataxia Type 20
  Elsdon Storey.
  Initial Posting: February 27, 2007; Last Revision: January 6, 2009.
• Spinocerebellar Ataxia Type 28
  Alessandro Brussino, Alfredo Brusco, and Alexandra Dürr.
  Initial Posting: May 17, 2011.
• Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive
  Hok Khim Fam, Mustafa AM Salih, Hiroshi Takashima, and Cornelius F Boerkoel.
  Initial Posting: October 22, 2007; Last Update: April 26, 2012.
• Spondylocostal Dysostosis, Autosomal Recessive
  Peter D Turnpenny, Elizabeth Young, and ICVAS (International Consortium for Vertebral Anomalies and Scoliosis)
  Initial Posting: August 25, 2009; Last Revision: October 14, 2010.
• Spondylothoracic Dysostosis
  Alberto S Cornier.
  Initial Posting: August 5, 2010.
• Stickler Syndrome
  Nathaniel H Robin, Rocio T Moran, Matthew Warman, and Leena Ala-Kokko.
  Initial Posting: June 9, 2000; Last Update: November 3, 2011.
• Succinic Semialdehyde Dehydrogenase Deficiency
  Phillip L Pearl, Tom Reehal, Ian Drillings, and K Michael Gibson.
  Initial Posting: May 5, 2004; Last Update: October 5, 2010.
• Systemic Primary Carnitine Deficiency
  Ayman W El-Hattab.
  Initial Posting: March 15, 2012.

• T

• TARDBP-Related Amyotrophic Lateral Sclerosis
  Matthew M Harms, Timothy M Miller, and Robert H Baloh.
  Initial Posting: April 23, 2009; Last Revision: May 28, 2009.
• TFR2-Related Hereditary Hemochromatosis
  Clara Camaschella and Antonella Roetto.
  Initial Posting: August 29, 2005; Last Update: June 9, 2011.
• Tetra-Amelia Syndrome
  Stephan Niemann.
  Initial Posting: August 28, 2007.
• Thanatophoric Dysplasia
  Barbara Karczeski and Garry R Cutting.
  Initial Posting: May 21, 2004; Last Update: September 30, 2008.
• The Organic Acidemias: An Overview
  Margretta R Seashore.
  Initial Posting: June 27, 2001; Last Update: December 22, 2009.
• Thiamine-Responsive Megaloblastic Anemia Syndrome
  Kimihiko Oishi and George A Diaz.
  Initial Posting: October 24, 2003; Last Update: April 8, 2010.
• Thoracic Aortic Aneurysms and Aortic Dissections
  Dianna M Milewicz and Ellen Regalado.
  Initial Posting: February 13, 2003; Last Revision: January 12, 2012.
• Thrombocytopenia Absent Radius Syndrome
  Helga V Toriello.
  Initial Posting: December 8, 2009; Last Update: February 2, 2012.
• Timothy Syndrome
  Igor Splawski, Katherine W Timothy, Silvia G Priori, Carlo Napolitano, and Raffaella Bloise.
  Initial Posting: February 15, 2006; Last Update: April 21, 2011.
• Tourette Disorder Overview
  Althea Stillman, A Gulhan Ercan-Sencicek, and Matthew W State.
  Initial Posting: November 10, 2009.
• Townes-Brocks Syndrome
  Jürgen Kohlhase.
  Initial Posting: January 24, 2007; Last Update: May 3, 2012.
• Treacher Collins Syndrome
  Sara Huston Katsanis and Ethylin Wang Jabs.
  Initial Posting: July 20, 2004; Last Update: October 27, 2011.
• Trimethylaminuria
  Ian R Phillips and Elizabeth A Shephard.
  Initial Posting: October 8, 2007; Last Update: April 19, 2011.
• Troyer Syndrome
  Heema Patel, Gaurav Harlalka, and Andrew Crosby.
  Initial Posting: November 16, 2004; Last Update: August 4, 2011.
• Tuberous Sclerosis Complex
  Hope Northrup, Mary Kay Koenig, and Kit-Sing Au.
  Initial Posting: July 13, 1999; Last Update: November 23, 2011.
• Tyrosine Hydroxylase Deficiency
  Kathryn J Swoboda and Yoshiaki Furukawa.
  Initial Posting: February 8, 2008.
• Tyrosinemia Type 1
  Lisa Sniderman King, Cristine Trahms, and C Ronald Scott.
  Initial Posting: July 24, 2006; Last Update: August 25, 2011.

• U

• UMOD-Associated Kidney Disease
  Anthony J Bleyer and P Suzanne Hart.
  Initial Posting: January 12, 2007; Last Update: March 15, 2011.
• Udd Distal Myopathy
  Tiina Suominen, Bjarne Udd, and Peter Hackman.
  Initial Posting: February 17, 2005; Last Update: March 4, 2010.
• Unverricht-Lundborg Disease
  Anna-Elina Lehesjoki and Reetta Kälviäinen.
  Initial Posting: June 24, 2004; Last Update: June 18, 2009.
• Urea Cycle Disorders Overview
  Brendan C Lanpher, Andrea Gropman, Kimberly A Chapman, Uta Lichter-Konecki, Urea Cycle Disorders Consortium, and Marshall L Summar.
  Initial Posting: April 29, 2003; Last Update: September 1, 2011.
• Usher Syndrome Type I
  Bronya JB Keats and Jennifer Lentz.
  Initial Posting: December 10, 1999; Last Update: October 28, 2010.
• Usher Syndrome Type II
  Bronya JB Keats and Jennifer Lentz.
  Initial Posting: December 10, 1999; Last Revision: December 29, 2011.

• V

• von Willebrand Disease
  Anne Goodeve and Paula James.
  Initial Posting: June 4, 2009; Last Update: October 13, 2011.
• VCAN-Related Vitreoretinopathy
  Barbara Kloeckener-Gruissem and Christoph Amstutz.
  Initial Posting: February 3, 2009.
• VLDLR-Associated Cerebellar Hypoplasia
  Kym M Boycott and Jillian S Parboosingh.
  Initial Posting: August 26, 2008.
• Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
  Nancy D Leslie, Brad T Tinkle, Arnold W Strauss, Kerry Shooner, and Kejian Zhang.
  Initial Posting: May 28, 2009; Last Update: September 22, 2011.
• Von Hippel-Lindau Syndrome
  R Neil Schimke, Debra L Collins, and Catherine A Stolle.
  Initial Posting: May 17, 2000; Last Update: December 22, 2009.

• W

• WAS-Related Disorders
  Alexandra H Filipovich, Judith Johnson, and Kejian Zhang.
  Initial Posting: September 30, 2004; Last Update: July 28, 2011.
• WFS1-Related Disorders
  Lisbeth Tranebjaerg, Timothy Barrett, and Nanna Dahl Rendtorff.
  Initial Posting: February 24, 2009; Last Revision: June 2, 2009.
• Waardenburg Syndrome Type I
  Jeff Mark Milunsky.
  Initial Posting: July 30, 2001; Last Update: December 29, 2011.
• Weill-Marchesani Syndrome
  Ekaterini Tsilou and Ian M MacDonald.
  Initial Posting: November 1, 2007.
• Werner Syndrome
  Junko Oshima, George M Martin, and Fuki M Hisama.
  Initial Posting: December 2, 2002; Last Revision: February 9, 2012.
• Williams Syndrome
  Colleen A Morris.
  Initial Posting: April 9, 1999; Last Update: April 21, 2006.
• Wilms Tumor Overview
  Jeffrey S Dome and Vicki Huff.
  Initial Posting: December 19, 2003; Last Update: June 14, 2011.
• Wilson Disease
  Diane W Cox and Eve Roberts.
  Initial Posting: October 22, 1999; Last Update: January 24, 2006.
• Wolf-Hirschhorn Syndrome
  Agatino Battaglia, John C Carey, Sarah T South, and Tracy J Wright.
  Initial Posting: April 29, 2002; Last Update: June 17, 2010.

• X

• X-Linked Adrenal Hypoplasia Congenita
  Eric J Vilain.
  Initial Posting: November 20, 2001; Last Revision: May 7, 2009.
• X-Linked Adrenoleukodystrophy
  Steven J Steinberg, Ann B Moser, and Gerald V Raymond.
  Initial Posting: March 26, 1999; Last Update: April 19, 2012.
• X-Linked Agammaglobulinemia
  Mary Ellen Conley and Vanessa C Howard.
  Initial Posting: April 5, 2001; Last Update: November 17, 2011.
• X-Linked Centronuclear Myopathy
  Soma Das, James Dowling, and Christopher R Pierson.
  Initial Posting: February 25, 2002; Last Update: October 6, 2011.
• X-Linked Congenital Stationary Night Blindness
  Kym M Boycott, Yves Sauvé, and Ian M MacDonald.
  Initial Posting: January 16, 2008; Last Update: April 26, 2012.
• X-Linked Dystonia-Parkinsonism
  Virgilio Gerald H Evidente.
  Initial Posting: December 13, 2005; Last Revision: June 22, 2010.
• X-Linked Hyper IgM Syndrome
  Judith Johnson, Alexandra H Filipovich, and Kejian Zhang.
  Initial Posting: May 31, 2007; Last Update: February 2, 2010.
• X-Linked Hypophosphatemia
  Mary D Ruppe.
  Initial Posting: February 9, 2012.
• X-Linked Juvenile Retinoschisis
  Paul A Sieving, Ian M MacDonald, Meira Rina Meltzer, and Nizar Smaoui.
  Initial Posting: October 24, 2003; Last Update: May 12, 2009.
• X-Linked Opitz G/BBB Syndrome
  Germana Meroni.
  Initial Posting: December 17, 2004; Last Update: July 28, 2011.
• X-Linked Periventricular Heterotopia
  Volney L Sheen, Adria Bodell, and Christopher A Walsh.
  Initial Posting: October 8, 2002; Last Revision: June 4, 2009.
• X-Linked Severe Combined Immunodeficiency
  Joie Davis and Jennifer M Puck.
  Initial Posting: August 26, 2003; Last Update: December 12, 2005.
• X-Linked Sideroblastic Anemia and Ataxia
  Roberta A Pagon and Thomas D Bird.
  Initial Posting: March 1, 2006; Last Update: April 7, 2009.
• X-Linked Spondyloepiphyseal Dysplasia Tarda
  George E Tiller and Vickie L Hannig.
  Initial Posting: November 1, 2001; Last Update: February 15, 2011.
• Xeroderma Pigmentosum
  Kenneth H Kraemer and John J DiGiovanna.
  Initial Posting: June 20, 2003; Last Revision: March 15, 2012.

• Y

• Y Chromosome Infertility
  Christine M Disteche.
  Initial Posting: October 31, 2002; Last Update: March 19, 2007.

• Z

• ZAP70-Related Severe Combined Immunodeficiency
  Marc Ikeda and Allyson Larkin.
  Initial Posting: October 20, 2009; Last Update: March 1, 2012.
• Glossary Instructions
• Illustrated Glossary