GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Schuurs-Hoeijmakers Syndrome  
Disease Aliases (16)

Autosomal dominant intellectual disability-17

Intellectual developmental disorder, autosomal dominant 17

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome

Mental retardation, autosomal dominant 17

Mrd17

Pacs1-related syndrome

Shms

Schuurs-hoeijmakers syndrome

Schuurs-hoeijmakers syndrome; shms

Autosomal dominant intellectual disability 17

Autosomal dominant mental retardation 17

Intellectual disability, autosomal dominant 17

Intellectual disability, autosomal dominant 17; mrd17

Intellectual disability, autosomal dominant type 17

Mental retardation, autosomal dominant 17; mrd17

Mental retardation, autosomal dominant type 17

Associated Genes (1)
 

NCBI-RefSeq:  PACS1   (Phosphofurin acidic cluster sorting protein 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Schuurs-Hoeijmakers syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations