Term Name: Perrault syndrome 6
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 )

Relationships
is a type of: Perrault syndrome