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Metadata
ID DOID:0080237
Name autosomal dominant intellectual developmental disorder 46
Definition An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14.
https://pubmed.ncbi.nlm.nih.gov/28669405/
Xrefs

OMIM:617601

Synonyms

autosomal dominant mental retardation 46 [EXACT]

Parent Relationships

is_a autosomal dominant intellectual developmental disorder

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