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DOID:0070538 - syndromic X-linked intellectual developmental disorder bain type
Disease Ontology Definition:A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1.
Synonyms: HNRNPH2-RNDD, HNRNPH2-related neurodevelopmental disorder, MRXSB, Mental Retardation, X-linked, Syndrome, Bain Type,
Xenbase Genes :
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee