Term Name: | Perrault syndrome 6 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080256] ( DOID:0080256 ) |