Metadata | |
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ID | DOID:0070068 |
Name | autosomal dominant intellectual developmental disorder 38 |
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 |
Xrefs | |
Synonyms |
autosomal dominant mental retardation 38 [EXACT] autosomal dominant non-syndromic intellectual disability 38 [EXACT] MRD38 [EXACT] PRELDS [EXACT] psychomotor retardation, epilepsy, and language disability syndrome [EXACT] |
Parent Relationships |