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Metadata
ID DOID:0070068
Name autosomal dominant non-syndromic intellectual disability 38
Definition An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EEF1A2 on chromosome 20q13.33.
https://www.ncbi.nlm.nih.gov/pubmed/24697219
Xrefs

OMIM:616393

Synonyms

autosomal dominant mental retardation 38 [EXACT]

MRD38 [EXACT]

PRELDS [EXACT]

psychomotor retardation, epilepsy, and language disability syndrome [EXACT]

Parent Relationships

is_a autosomal dominant non-syndromic intellectual disability

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