Perrault syndrome 7

info · Syndrome

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.

Signs and symptoms

Premature ovarian insufficiency
Bilateral sensorineural hearing impairment
Mild intellectual disability
Short stature
Elevated circulating luteinizing hormone level
Global developmental delay
Streak ovary
Elevated circulating follicle stimulating hormone level
Primary amenorrhea
Hypoglycemia

Also known as: PRLTS7