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severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.
Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD18 patients have severe intellectual disability and dysmorphic features.
Disease Ontology Description An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.
Mondo Term and Equivalent IDs
MONDO:0014034:  severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
GARD:0012815: 
Orphanet:363686: 
UMLS:C3554448: