Term Name: | autosomal dominant intellectual developmental disorder 74 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0061047] ( DOID:0061047 ) |