Metadata | |
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ID | DOID:0061039 |
Name | autosomal dominant intellectual developmental disorder 66 |
Definition | An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chromosome 12q21. https://pubmed.ncbi.nlm.nih.gov/35358416/ |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |