(Q50349621)
English
Schuurs-Hoeijmakers Syndrome
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PACS1 on chromosome 11q13.1-q13.2.
- MRD17
- autosomal dominant mental retardation 17
- SHMS
- MENTAL RETARDATION, AUTOSOMAL DOMINANT 17; MRD17
- Mental Retardation, Autosomal Dominant type 17
- Schuurs-Hoeijmakers syndrome
- MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
Statements
1 reference
1 reference
1 reference
4 references
C150555
0 references
1 reference
Identifiers
1 reference
1 reference
1 reference
1 reference
1 reference