| Metadata | |
|---|---|
| ID | DOID:0070064 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070064 Copy |
| Name | autosomal dominant intellectual developmental disorder 34 |
| Definition | An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3. https://www.ncbi.nlm.nih.gov/pubmed/25533962 |
| Xrefs | |
| Synonyms |
autosomal dominant mental retardation 34 [EXACT] autosomal dominant non-syndromic intellectual disability 34 [EXACT] MRD34 [EXACT] neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies [EXACT] |
| Parent Relationships |