autosomal dominant intellectual developmental disorder 45

Term ID

DOID:0080236

Synonyms

autosomal dominant mental retardation 45

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/28288114/

References

MIM:617600

Ontology

Human Disease ( DOID:0080236 )

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