Perrault syndrome 7

Term ID

DOID:0061073

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. https://pubmed.ncbi.nlm.nih.gov/39701103/

References

• MIM:621101

Ontology

Human Disease   ( DOID:0061073 )