neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities Disease Ontology Browser

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neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities (DOID:0070815)
Alliance: disease page
Synonyms: NEDSFB
Alt IDs: OMIM:621182, UMLS_CUI:C6012716
Definition: An autosomal recessive intellectual developmental disorder characterized by global developmental delay including delays in walking and speech development, with some having hypotonia and inability to walk unsupported and most being nonverbal, intellectual disability ranging from mild to severe, and behavioral features including aggression, hyperactivity, and autism that has_material_basis_in homozygous mutation in the NAV3 gene on chromosome 12q21.

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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