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micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability 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. MRD44 patients manifest developmental delay, variable intellectual disability, distinctive facial features, and abnormalities of the fingers. Most patients also have microcephaly.
Disease Ontology Description An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of TRIO on chromosome 5p15.2.
Mondo Term and Equivalent IDs
MONDO:0014892:  micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Orphanet:476126: 
UMLS:C4310740: