| Metadata | |
|---|---|
| ID | DOID:0060812 |
| Name | syndromic X-linked intellectual disability Siderius type |
| Definition | A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22. https://www.ncbi.nlm.nih.gov/pubmed/10398231, https://www.ncbi.nlm.nih.gov/pubmed/16199551 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
mental retardation syndrome, X-linked, Siderius type [EXACT] MRXSSD [EXACT] Siderius X-linked mental retardation syndrome [EXACT] Siderius-Hamel syndrome [EXACT] |
| Parent Relationships |