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

MIM:617788

Ontology

Human Disease ( DOID:0080232 )

Relationships

is a type of: autosomal dominant intellectual developmental disorder

autosomal dominant intellectual developmental disorder Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models