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microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

Disease Summary
Associated Targets (1)
Tbio

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 PPP2R1A on chromosome 19q13.41.
Mondo Term and Equivalent IDs
MONDO:0014605:  microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Orphanet:457284: