| Metadata | |
|---|---|
| ID | DOID:0112051 |
| Name | non-syndromic X-linked intellectual disability 30 |
| Definition | A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. https://pubmed.ncbi.nlm.nih.gov/10946356/, https://pubmed.ncbi.nlm.nih.gov/9332663/, https://pubmed.ncbi.nlm.nih.gov/9731525/ |
| Xrefs | |
| Synonyms |
MRX30 [EXACT] MRX47 [EXACT] X-linked mental retardation 30 [EXACT] X-linked mental retardation 30/47 [EXACT] X-linked mental retardation 47 [EXACT] |
| Parent Relationships |