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Metadata
ID DOID:0061044
Name autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities
Definition An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21.
https://pubmed.ncbi.nlm.nih.gov/33658631/
Xrefs

MIM:620330

Parent Relationships

is_a autosomal dominant intellectual developmental disorder

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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