Perrault syndrome 6

Term ID

DOID:0080256

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. https://pubmed.ncbi.nlm.nih.gov/28449065/

References

• OMIM:617565

Ontology

Human Disease   ( DOID:0080256 )