autosomal dominant intellectual developmental disorder 74

Term ID

DOID:0061047

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. https://pubmed.ncbi.nlm.nih.gov/37541189/

References

• MIM:620688

Ontology

Human Disease   ( DOID:0061047 )