muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
MONDO:0859189Mondo
Findings
No curated finding names muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome 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
- Congenital onset
HPO, annotations 2026-09-02
Features
19 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.
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 9 of 9 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 9 of 9 reported patients
- Female infertilityHPOHP:0008222
- 3 of 3 reported patients
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Premature ovarian insufficiencyHPOHP:0008209
- 3 of 3 reported patients · Female
- Progressive muscle weaknessHPOHP:0003323
- 11 of 11 reported patients
- Rimmed vacuolesHPOHP:0003805
- 9 of 9 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 10 of 11 reported patients · Congenital onset
- Respiratory insufficiencyHPOHP:0002093
- 8 of 10 reported patients
- Short statureHPOHP:0004322
- 8 of 11 reported patients
- Failure to thriveHPOHP:0001508
- 7 of 10 reported patients
- Reduced forced vital capacityHPOHP:0032341
- 2 of 4 reported patients
Show the remaining 7
- Loss of ambulationHPOHP:0002505
- 5 of 11 reported patients · Juvenile onset
- ScoliosisHPOHP:0002650
- 4 of 10 reported patients
- Skeletal muscle autophagosome accumulationHPOHP:0025717
- 2 of 9 reported patients
- Mitochondrial hypertrophyHPOHP:0033686
- 1 of 9 reported patients
- Decreased fetal movementHPOHP:0001558
- Fetal onset
- Poor suckHPOHP:0002033
- Weak cry
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GGPS1HGNC:4249
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of