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Metadata
ID DOID:0070047
Name Schuurs-Hoeijmakers Syndrome
Definition An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PACS1 on chromosome 11q13.1-q13.2.
https://www.ncbi.nlm.nih.gov/pubmed/26842493
Xrefs

OMIM:615009

Synonyms

autosomal dominant mental retardation 17 [EXACT]

MRD17 [EXACT]

SHMS [EXACT]

Parent Relationships

is_a autosomal dominant non-syndromic intellectual disability

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