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