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