Perrault syndrome 6 (DOID:0080256)
Alliance: disease page
Alt IDs: OMIM:617565
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.