Term Name: | Perrault syndrome 2 |
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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 ) |