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Human Disease

Schuurs-Hoeijmakers Syndrome

Term ID
DOID:0070047
Synonyms
  • autosomal dominant mental retardation 17
  • MRD17
  • SHMS
Definition
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2. https://www.ncbi.nlm.nih.gov/pubmed/26842493
References
Ontology
Human Disease   ( DOID:0070047 )
Relationships
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Genes Involved
Zebrafish Models