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Metadata
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/
Xrefs

MIM:619910

Parent Relationships

is_a autosomal dominant intellectual developmental disorder

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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