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Metadata
ID DOID:0070070
Name autosomal dominant non-syndromic intellectual disability 40
Definition An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene (616327) on chromosome 13q34.
https://www.ncbi.nlm.nih.gov/pubmed/25533962
Xrefs

OMIM:616579

Synonyms

autosomal dominant mental retardation 40 [EXACT]

MRD40 [EXACT]

Parent Relationships

is_a autosomal dominant non-syndromic intellectual disability

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