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MIRAGE
syndromic X-linked intellectual disability Siderius type
Summary
- Synonym
-
- MRXSSD
- Siderius X-linked mental retardation syndrome
- Siderius-Hamel syndrome
- mental retardation syndrome, X-linked, 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.
- Super Class
- X-linked recessive disease syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0060812
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UPP1 | Histone lysine demethylase PHF8 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q80TJ7 | Histone lysine demethylase PHF8 |
