autosomal dominant intellectual developmental disorder 73

Term ID

DOID:0061046

Synonyms

Definition

An autosomal dominant intellectual developmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features that has_material_basis_in heterozygous mutation in the TAF4 gene on chromosome 20q13. https://pubmed.ncbi.nlm.nih.gov/35904126/

References

• MIM:620450

Ontology

Human Disease   ( DOID:0061046 )