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Metadata
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

MIM:621101

Synonyms

PRLTS7 [EXACT]

Parent Relationships

is_a Perrault syndrome

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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