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Results: 2

1.

Chromosome 2, monosomy 2q37

MedGen UID:
419169
Concept ID:
C2931817
Cell or Molecular Dysfunction
2.

Brachydactyly-Mental Retardation syndrome

2q37 microdeletion syndrome is characterized by mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5 (often digit 4 alone) (>50%), short stature, obesity, hypotonia, characteristic facial appearance, autism or autism spectrum disorder (30%), joint hypermobility/dislocation, and scoliosis. Other findings include seizures (20%-35%), congenital heart disease, CNS abnormalities (hydrocephalus, dilated ventricles), umbilical/inguinal hernia, tracheomalacia, situs abnormalities, gastrointestinal abnormalities, and renal malformations. Wilms tumor has been reported in two individuals. [from GeneReviews]

MedGen UID:
373895
Concept ID:
C1838126
Disease or Syndrome

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