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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

MIM:620157

Parent Relationships

is_a autosomal dominant intellectual developmental disorder

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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