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Metadata
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/
Xrefs

MIM:620688

Parent Relationships

is_a autosomal dominant intellectual developmental disorder

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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