| Metadata | |
|---|---|
| ID | DOID:0070710 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070710 Copy |
| Name | neurodevelopmental disorder with speech delay and behavioral abnormalities |
| 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. https://pubmed.ncbi.nlm.nih.gov/39721588/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621372 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDSBH [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |