| Metadata | |
|---|---|
| ID | DOID:0061043 |
| Name | autosomal dominant intellectual developmental disorder 70 |
| Definition | An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21. https://pubmed.ncbi.nlm.nih.gov/32710489/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |