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Mowat-Wilson syndrome(MOWS)

MedGen UID:
341067
Concept ID:
C1856113
Disease or Syndrome
Synonyms: Hirschsprung disease mental retardation syndrome; Mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease; MOWS
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Microcephaly, mental retardation and distinct features, with or without Hirschsprung disease (703535000); Mowat-Wilson syndrome (703535000); Hirschsprung disease-mental retardation syndrome (703535000)
 
Gene (location): ZEB2 (2q22.3)
OMIM®: 235730
Orphanet: ORPHA2152

Disease characteristics

Excerpted from the GeneReview: Mowat-Wilson Syndrome
Mowat-Wilson syndrome (MWS) is characterized by the following: Distinctive facial features. Structural anomalies including: Hirschsprung disease. Genitourinary anomalies (particularly hypospadias in males). Congenital heart defects (particularly abnormalities of the pulmonary arteries and/or valves). Agenesis or hypogenesis of the corpus callosum. Eye defects (microphthalmia and Axenfeld anomaly). Functional differences including: Moderate to severe intellectual disability. Severe speech impairment with relative preservation of receptive language. Seizures. Growth retardation with microcephaly. Chronic constipation in those without Hirschsprung disease. [from GeneReviews]
Authors:
Margaret P Adam  |  Jessie Conta  |  Lora JH Bean   view full author information

Additional descriptions

From OMIM
Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (609460) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (609367) located on 10q.  http://www.omim.org/entry/235730
From GHR
Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.Children with Mowat-Wilson syndrome have a square-shaped face with deep-set, widely spaced eyes. They also have a broad nasal bridge with a rounded nasal tip; a prominent and pointed chin; large, flaring eyebrows; and uplifted earlobes with a dimple in the middle. These facial features become more distinctive with age, and adults with Mowat-Wilson syndrome have an elongated face with heavy eyebrows and a pronounced chin and jaw. Affected people tend to have a smiling, open-mouthed expression, and they typically have friendly and happy personalities.Mowat-Wilson syndrome is often associated with an unusually small head (microcephaly), structural brain abnormalities, and intellectual disability ranging from moderate to severe. Speech is absent or severely impaired, and affected people may learn to speak only a few words. Many people with this condition can understand others' speech, however, and some use sign language to communicate. If speech develops, it is delayed until mid-childhood or later. Children with Mowat-Wilson syndrome also have delayed development of motor skills such as sitting, standing, and walking.More than half of people with Mowat-Wilson syndrome are born with an intestinal disorder called Hirschsprung disease that causes severe constipation, intestinal blockage, and enlargement of the colon. Chronic constipation also occurs frequently in people with Mowat-Wilson syndrome who have not been diagnosed with Hirschsprung disease.Other features of Mowat-Wilson syndrome include short stature, seizures, heart defects, and abnormalities of the urinary tract and genitalia. Less commonly, this condition also affects the eyes, teeth, hands, and skin coloring (pigmentation). Although many different medical issues have been associated with Mowat-Wilson syndrome, not every individual with this condition has all of these features.  https://ghr.nlm.nih.gov/condition/mowat-wilson-syndrome

Clinical features

Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Deeply set eye
MedGen UID:
8638
Concept ID:
C0014306
Disease or Syndrome
An eye that is more deeply recessed into the plane of the face than is typical.
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatevely severe degree, usually defined as 10 diopters or more.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A coloboma of the iris.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Anatomical Abnormality
Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect.
Pulmonary artery stenosis
MedGen UID:
65965
Concept ID:
C0238397
Anatomical Abnormality
An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
Pulmonary artery sling
MedGen UID:
341071
Concept ID:
C1856123
Finding
An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum.
Pulmonic stenosis
MedGen UID:
408291
Concept ID:
C1956257
Disease or Syndrome
Narrowing of the opening between the pulmonary artery and the right ventricle, usually at the level of the valve leaflets.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Constipation means that a person has three or fewer bowel movements in a week. The stool can be hard and dry. Sometimes it is painful to pass. At one time or another, almost everyone gets constipated. In most cases, it lasts a short time and is not serious. . There are many things you can do to prevent constipation. They include - Eating more fruits, vegetables and grains, which are high in fiber. - Drinking plenty of water and other liquids. - Getting enough exercise. - Taking time to have a bowel movement when you need to. - Using laxatives only if your doctor says you should. - Asking your doctor if medicines you take may cause constipation. . It's not important that you have a bowel movement every day. If your bowel habits change, however, check with your doctor. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Aganglionic megacolon
MedGen UID:
6285
Concept ID:
C0025160
Pathologic Function
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Abnormality of the abdominal wall
MedGen UID:
867301
Concept ID:
C4021664
Anatomical Abnormality
The presence of any abnormality affecting the abdominal wall.
Ear malformation
MedGen UID:
75618
Concept ID:
C0266589
Congenital Abnormality
An abnormality of the ear.
Large earlobe
MedGen UID:
334979
Concept ID:
C1844573
Finding
Increased volume of the earlobe, that is, abnormally prominent ear lobules.
Uplifted earlobe
MedGen UID:
344655
Concept ID:
C1856117
Anatomical Abnormality
An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.
Drooling
MedGen UID:
8484
Concept ID:
C0013132
Sign or Symptom
Habitual flow of saliva out of the mouth.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
Aganglionic megacolon
MedGen UID:
6285
Concept ID:
C0025160
Pathologic Function
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Intellectual disability, moderate
MedGen UID:
7680
Concept ID:
C0026351
Mental or Behavioral Dysfunction
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Corpus callosum agenesis
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Happy demeanor
MedGen UID:
344654
Concept ID:
C1856115
Finding
Intellectual functioning disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabiled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Motor delay
MedGen UID:
892432
Concept ID:
C4020874
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Pulmonary artery stenosis
MedGen UID:
65965
Concept ID:
C0238397
Anatomical Abnormality
An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
Pulmonary artery sling
MedGen UID:
341071
Concept ID:
C1856123
Finding
An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum.
Cryptorchidism, unilateral or bilateral
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Bifid scrotum
MedGen UID:
90968
Concept ID:
C0341787
Congenital Abnormality
Midline indentation or cleft of the scrotum.
Hypospadias
MedGen UID:
305577
Concept ID:
C1691215
Congenital Abnormality
Location of the urethral opening on the inferior aspect of the penis.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Generalized muscle hypertrophy
MedGen UID:
811969
Concept ID:
C3805639
Finding
Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Abnormality of the rib cage
MedGen UID:
428272
Concept ID:
CN001412
Finding
A morphological anomaly of the rib cage.
Drooling
MedGen UID:
8484
Concept ID:
C0013132
Sign or Symptom
Habitual flow of saliva out of the mouth.
Deeply set eye
MedGen UID:
8638
Concept ID:
C0014306
Disease or Syndrome
An eye that is more deeply recessed into the plane of the face than is typical.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Delayed eruption of teeth
MedGen UID:
68678
Concept ID:
C0239174
Pathologic Function
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A coloboma of the iris.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Submucous cleft hard palate
MedGen UID:
98472
Concept ID:
C0432103
Congenital Abnormality
Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
Pointed chin
MedGen UID:
336193
Concept ID:
C1844505
Finding
A marked tapering of the lower face to the chin.
Widely spaced teeth
MedGen UID:
337093
Concept ID:
C1844813
Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Prominent nasal tip
MedGen UID:
383839
Concept ID:
C1856118
Finding
Low hanging columella
MedGen UID:
344656
Concept ID:
C1856119
Finding
Columella extending inferior to the level of the nasal base, when viewed from the side.
Broad eyebrow
MedGen UID:
344657
Concept ID:
C1856121
Finding
Regional increase in the width (height) of the eyebrow.
Broad eyebrow
MedGen UID:
344657
Concept ID:
C1856121
Finding
Regional increase in the width (height) of the eyebrow.
Supernumerary nipple
MedGen UID:
120564
Concept ID:
C0266011
Congenital Abnormality
Presence of more than two nipples.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMowat-Wilson syndrome
Follow this link to review classifications for Mowat-Wilson syndrome in Orphanet.

Professional guidelines

PubMed

Zollino M, Garavelli L, Rauch A
Eur J Hum Genet 2011 Aug;19(8) Epub 2011 Feb 23 doi: 10.1038/ejhg.2011.12. PMID: 21343952Free PMC Article

Recent clinical studies

Etiology

Coyle D, Puri P
Pediatr Surg Int 2015 Aug;31(8):711-7. Epub 2015 Jul 9 doi: 10.1007/s00383-015-3732-x. PMID: 26156877
Paz JA, Kim CA, Goossens M, Giurgea I, Marques-Dias MJ
Arq Neuropsiquiatr 2015 Jan;73(1):12-7. Epub 2015 Jan 1 doi: 10.1590/0004-282X20140182. PMID: 25608121
Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, Seri M, Rosato S, Gelmini C, Della Giustina E, Ferrari AR, Zanotta N, Epifanio R, Grioni D, Malbora B, Mammi I, Mari F, Buoni S, Mostardini R, Grosso S, Pantaleoni C, Doz M, Poch-Olivé ML, Rivieri F, Sorge G, Simonte G, Licata F, Tarani L, Terazzi E, Mazzanti L, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, Franzoni E
Am J Med Genet A 2013 Feb;161A(2):273-84. Epub 2013 Jan 15 doi: 10.1002/ajmg.a.35717. PMID: 23322667
Saunders CJ, Zhao W, Ardinger HH
Am J Med Genet A 2009 Nov;149A(11):2527-31. doi: 10.1002/ajmg.a.33067. PMID: 19842203
Bonnard A, Zeidan S, Degas V, Viala J, Baumann C, Berrebi D, Perrusson O, El Ghoneimi A
J Pediatr Surg 2009 Mar;44(3):587-91. doi: 10.1016/j.jpedsurg.2008.10.066. PMID: 19302864

Diagnosis

Evans E, Mowat D, Wilson M, Einfeld S
Am J Med Genet A 2016 Mar;170(3):654-60. Epub 2015 Dec 21 doi: 10.1002/ajmg.a.37502. PMID: 26686679
Murray SB, Spangler BB, Helm BM, Vergano SS
Am J Med Genet A 2015 Oct;167A(10):2402-5. Epub 2015 May 26 doi: 10.1002/ajmg.a.37171. PMID: 26012591
Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH
Am J Med Genet A 2014 Oct;164A(10):2557-66. Epub 2014 Aug 14 doi: 10.1002/ajmg.a.36696. PMID: 25123255
Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, Kimura R, Yamamoto Y, Fukushi D, Fukuhara Y, Ishihara N, Nishi E, Imataka G, Suzumura H, Hamano S, Shimizu K, Iwakoshi M, Ohama K, Ohta A, Wakamoto H, Kajita M, Miura K, Yokochi K, Kosaki K, Kuroda T, Kosaki R, Hiraki Y, Saito K, Mizuno S, Kurosawa K, Okamoto N, Wakamatsu N
Am J Med Genet A 2014 Aug;164A(8):1899-908. Epub 2014 Apr 8 doi: 10.1002/ajmg.a.36551. PMID: 24715670
Park JY, Cho EH, Lee EH, Kang YS, Jun KR, Hur YJ
Gene 2013 Dec 15;532(2):307-9. Epub 2013 Sep 9 doi: 10.1016/j.gene.2013.07.067. PMID: 24029077

Therapy

Abdalla EM, Zayed LH
J Child Neurol 2014 Dec;29(12):NP168-70. Epub 2013 Nov 25 doi: 10.1177/0883073813509120. PMID: 24282181
Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, Seri M, Rosato S, Gelmini C, Della Giustina E, Ferrari AR, Zanotta N, Epifanio R, Grioni D, Malbora B, Mammi I, Mari F, Buoni S, Mostardini R, Grosso S, Pantaleoni C, Doz M, Poch-Olivé ML, Rivieri F, Sorge G, Simonte G, Licata F, Tarani L, Terazzi E, Mazzanti L, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, Franzoni E
Am J Med Genet A 2013 Feb;161A(2):273-84. Epub 2013 Jan 15 doi: 10.1002/ajmg.a.35717. PMID: 23322667

Prognosis

Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, Seri M, Rosato S, Gelmini C, Della Giustina E, Ferrari AR, Zanotta N, Epifanio R, Grioni D, Malbora B, Mammi I, Mari F, Buoni S, Mostardini R, Grosso S, Pantaleoni C, Doz M, Poch-Olivé ML, Rivieri F, Sorge G, Simonte G, Licata F, Tarani L, Terazzi E, Mazzanti L, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, Franzoni E
Am J Med Genet A 2013 Feb;161A(2):273-84. Epub 2013 Jan 15 doi: 10.1002/ajmg.a.35717. PMID: 23322667
Smigiel R, Szafranska A, Czyzewska M, Rauch A, Zweier Ch, Patkowski D
J Appl Genet 2010;51(1):111-3. PMID: 20145308
Bonnard A, Zeidan S, Degas V, Viala J, Baumann C, Berrebi D, Perrusson O, El Ghoneimi A
J Pediatr Surg 2009 Mar;44(3):587-91. doi: 10.1016/j.jpedsurg.2008.10.066. PMID: 19302864
Ohtsuka M, Oguni H, Ito Y, Nakayama T, Matsuo M, Osawa M, Saito K, Yamada Y, Wakamatsu N
J Child Neurol 2008 Mar;23(3):274-8. Epub 2008 Jan 29 doi: 10.1177/0883073807309231. PMID: 18230842
Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A
Eur J Med Genet 2005 Apr-Jun;48(2):97-111. Epub 2005 Feb 25 doi: 10.1016/j.ejmg.2005.01.003. PMID: 16053902

Clinical prediction guides

Evans E, Mowat D, Wilson M, Einfeld S
Am J Med Genet A 2016 Mar;170(3):654-60. Epub 2015 Dec 21 doi: 10.1002/ajmg.a.37502. PMID: 26686679
Takagi T, Nishizaki Y, Matsui F, Wakamatsu N, Higashi Y
Hum Mol Genet 2015 Nov 15;24(22):6390-402. Epub 2015 Aug 28 doi: 10.1093/hmg/ddv350. PMID: 26319231
Ferris Villanueva E, Guerrero Bautista R, Chica Marchal A
Nutr Hosp 2015 Apr 1;31(4):1882-4. doi: 10.3305/nh.2015.31.4.8379. PMID: 25795985
Paz JA, Kim CA, Goossens M, Giurgea I, Marques-Dias MJ
Arq Neuropsiquiatr 2015 Jan;73(1):12-7. Epub 2015 Jan 1 doi: 10.1590/0004-282X20140182. PMID: 25608121
Ghoumid J, Drevillon L, Alavi-Naini SM, Bondurand N, Rio M, Briand-Suleau A, Nasser M, Goodwin L, Raymond P, Yanicostas C, Goossens M, Lyonnet S, Mowat D, Amiel J, Soussi-Yanicostas N, Giurgea I
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