Metadata | |
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ID | DOID:0061073 |
Name | Perrault syndrome 7 |
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/ |
Xrefs | |
Synonyms |
PRLTS7 [EXACT] |
Parent Relationships |
is_a Perrault syndrome |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |