Metadata | |
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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/ |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |