mitochondrial dna depletion syndrome 21
MONDO:0976132Mondo
Findings
No curated finding names mitochondrial dna depletion syndrome 21 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
- Infantile onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
56 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.
- Abdominal painHPOHP:0002027
- 1 of 1 reported patient
- AsthmaHPOHP:0002099
- 1 of 1 reported patient
- AutismHPOHP:0000717
- 1 of 1 reported patient
- Bilateral ptosisHPOHP:0001488
- 1 of 1 reported patient
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 2 of 2 reported patients
- Chronic fatigueHPOHP:0012432
- 4 of 4 reported patients
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 4 of 4 reported patients
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 2 of 2 reported patients
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 2 of 2 reported patients
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 4 of 4 reported patients
Show the remaining 44
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Hepatic steatosisHPOHP:0001397
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
- ImmunodeficiencyHPOHP:0002721
- 2 of 2 reported patients
- Impaired distal vibration sensationHPOHP:0006886
- 1 of 1 reported patient
- Increased variability in muscle fiber diameterHPOHP:0003557
- 4 of 4 reported patients
Where it sits
- A kind of