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MIRAGE
autosomal recessive nonsyndromic deafness 106
Summary
- Definition
- An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15.
- Super Class
- autosomal recessive nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0080261
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H6S3 | Epidermal growth factor receptor kinase substrate 8-like protein 2 |
