| Metadata | |
|---|---|
| ID | DOID:0080256 |
| Name | Perrault syndrome 6 |
| Definition | A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11. https://pubmed.ncbi.nlm.nih.gov/28449065/ |
| Xrefs | |
| Parent Relationships |
is_a Perrault syndrome |