autosomal dominant intellectual developmental disorder 51

Term ID

DOID:0080232

Synonyms

• autosomal dominant mental retardation 51

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13. https://pubmed.ncbi.nlm.nih.gov/28191889/

References

• OMIM:617788

Ontology

Human Disease   ( DOID:0080232 )