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intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1.
Uniprot Description A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Disease Ontology Description An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1.
Mondo Term and Equivalent IDs
MONDO:0014602:  intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Orphanet:457279: 
UMLS:C4225354: