neurodevelopmental disorder with speech delay and behavioral abnormalities Disease Ontology Browser

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Disease Ontology Browser

neurodevelopmental disorder with speech delay and behavioral abnormalities (DOID:0070710)
Alliance: disease page
Synonyms: NEDSBH
Alt IDs: OMIM:621372
Definition: An autosomal dominant intellectual developmental disorder characterized by delayed motor, speech, and/or cognitive development beginning in infancy or early childhood and behavioral abnormalities that has_material_basis_in heterozygous mutation in the UBR5 gene on chromosome 8q22.

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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