Metadata | |
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ID | DOID:0061047 |
Name | autosomal dominant intellectual developmental disorder 74 |
Definition | An autosomal dominant intellectual developmental disorder characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features that has_material_basis_in heterozygous mutation in the HNRNPC gene on chromosome 14q11. https://pubmed.ncbi.nlm.nih.gov/37541189/ |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |