mitochondrial dna depletion syndrome 14A (encephalomyopathic type)
MONDO:0980967Mondo
Findings
No curated finding names mitochondrial dna depletion syndrome 14A (encephalomyopathic type) yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Fetal onset
HPO, annotations 2026-09-02
Features
26 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.
- Delayed ability to sitHPOHP:0025336
- 2 of 2 reported patients
- DyspneaHPOHP:0002094
- 1 of 1 reported patient
- EEG with burst suppressionHPOHP:0010851
- 1 of 1 reported patient
- EncephalopathyHPOHP:0001298
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Hyperkinetic movementsHPOHP:0002487
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 2 of 2 reported patients
- Increased CSF lactateHPOHP:0002490
- 1 of 1 reported patient
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- Lower limb spasticityHPOHP:0002061
- 1 of 1 reported patient
- Motor regressionHPOHP:0033044
- 1 of 1 reported patient
Show the remaining 14
- Myoclonic status epilepticusHPOHP:0032667
- 1 of 1 reported patient
- Peripheral axonal neuropathyHPOHP:0003477
- 1 of 1 reported patient
- Poor head controlHPOHP:0002421
- 1 of 1 reported patient
- Respiratory acidosisHPOHP:0005972
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Spastic tetraparesisHPOHP:0001285
- 2 of 2 reported patients
Where it sits
- A kind of