Term Name: | autosomal dominant intellectual developmental disorder 38 |
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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. |
Ontology: | Human Disease [DOID:0070068] ( DOID:0070068 ) |