Term Name: Perrault syndrome 2
Synonyms:
Definition: A Perrault syndrome that is characterized by sensorineural deafness in both males and females that has_material_basis_in compound heterozygous mutation in the HARS2 gene on chromosome 5q31.
Ontology: Human Disease [DOID:0061117]   ( DOID:0061117 )

Relationships
is a type of: Perrault syndrome