Perrault syndrome 2

Term ID

DOID:0061117

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. https://pubmed.ncbi.nlm.nih.gov/21464306/

References

• MIM:614926

Ontology

Human Disease   ( DOID:0061117 )