Term Name: | Perrault syndrome 7 |
---|---|
Synonyms: | PRLTS7 |
Definition: | A Perrault syndrome that is characterized by sensorineural hearing loss and ovarian insufficiency in females and that has_material_basis_in compound heterozygous or homozygous mutation in the DAP3 gene on chromosome 1q22. |
Ontology: | Human Disease [DOID:0061073] ( DOID:0061073 ) |