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autosomal dominant intellectual developmental disorder 38
Summary
- Synonym
-
- MRD38
- PRELDS
- autosomal dominant mental retardation 38
- autosomal dominant non-syndromic intellectual disability 38
- 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.
- Super Class
- autosomal dominant intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0070068
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
