| Term Name: | neurodevelopmental disorder with speech delay and behavioral abnormalities |
|---|---|
| Synonyms: | NEDSBH |
| 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. |
| Ontology: | Human Disease [DOID:0070710] ( DOID:0070710 ) |