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MIRAGE
X-linked deafness 1
Summary
- Synonym
-
- DFN2
- DFNX1
- X-linked sensorineural congenital deafness 2
- Definition
- An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3.
- Super Class
- X-linked nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0111739
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P60891 | Ribose-phosphate pyrophosphokinase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000407 | Sensorineural hearing impairment |
| HP:0001419 | X-linked recessive inheritance |
