autosomal dominant intellectual developmental disorder 34

Term ID

DOID:0070064

Synonyms

• autosomal dominant mental retardation 34
• autosomal dominant non-syndromic intellectual disability 34
• MRD34

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3. https://www.ncbi.nlm.nih.gov/pubmed/25533962

References

• OMIM:616351

Ontology

Human Disease   ( DOID:0070064 )