Perrault syndrome 7
MONDO:0976232Mondo
Findings
No curated finding names Perrault syndrome 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- 3 of 3 reported patients
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- 2 of 2 reported patients
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Mild intellectual disabilityHPOHP:0001256
- 2 of 2 reported patients
- Premature ovarian insufficiencyHPOHP:0008209
- 3 of 3 reported patients
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- Streak ovaryHPOHP:0010464
- 1 of 1 reported patient
- Primary amenorrheaHPOHP:0000786
- 2 of 3 reported patients
- HypoglycemiaHPOHP:0001943
- 1 of 2 reported patients
- Lactic acidosisHPOHP:0003128
- 1 of 2 reported patients
- Abnormal retinal morphologyHPOHP:0000479
- 0 of 3 reported patients
Show the remaining 6
- AtaxiaHPOHP:0001251
- 0 of 1 reported patient
- Chronic kidney diseaseHPOHP:0012622
- 0 of 3 reported patients
- Hepatic failureHPOHP:0001399
- 0 of 3 reported patients
- HepatomegalyHPOHP:0002240
- 0 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 1 reported patient
- SeizureHPOHP:0001250
- 0 of 2 reported patients
Where it sits
- A kind of