autosomal dominant intellectual developmental disorder 38

Term ID

DOID:0070068

Synonyms

• autosomal dominant mental retardation 38
• autosomal dominant non-syndromic intellectual disability 38
• MRD38
• PRELDS
• psychomotor retardation, epilepsy, and language disability syndrome

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33. https://www.ncbi.nlm.nih.gov/pubmed/24697219

References

• MIM:616393

Ontology

Human Disease   ( DOID:0070068 )