Term Name: autosomal dominant intellectual developmental disorder 74
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 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder