neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities Disease Ontology Browser

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neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities (DOID:0070694)
Alliance: disease page
Synonyms: NEDCRO
Alt IDs: OMIM:621474
Definition: A autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, mildly delayed walking and speech acquisition, impaired intellectual development ranging from learning difficulties to severe cognitive impairment, behavioral abnormalities or autistic features, and congenital heart defects that has_material_basis_in heterozygous mutation in the KDM2B gene on chromosome 12q24.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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