WormBase Tree Display for DO_term: DOID:0060812
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| DOID:0060812 | Name | syndromic X-linked intellectual disability Siderius type | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | MRXSSD | |||
| Siderius X-linked mental retardation syndrome | |||||
| Siderius-Hamel syndrome | |||||
| mental retardation syndrome, X-linked, Siderius type | |||||
| Parent | Is_a | DOID:0060309 | |||
| DOID:0080012 | |||||
| DB_info | Database | OMIM | disease | 300263 | |
| Attribute_of | Gene_by_orthology | WBGene00005013 | |||
| WBGene00017920 |
