neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
MONDO:0014562Mondo
Findings
No curated finding names neonatal encephalomyopathy-cardiomyopathy-respiratory distress 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 · Infantile onset · Juvenile onset · Neonatal onset · Fetal onset · Childhood onset
HPO, annotations 2026-09-02
Features
57 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.
- AreflexiaHPOHP:0001284
- 3 of 3 reported patients
- Coarse facial featuresHPOHP:0000280
- 1 of 1 reported patient
- Decreased level of coenzyme Q10 in skeletal muscleHPOHP:0034369
- 5 of 5 reported patients
- DysmetriaHPOHP:0001310
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 2 of 2 reported patients
- EEG with burst suppressionHPOHP:0010851
- 2 of 2 reported patients
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 13 of 13 reported patients
- HyperammonemiaHPOHP:0001987
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient · Neonatal onset
- 1 of 1 reported patient
- 7 of 11 reported patients
- 5 of 5 reported patients
Show the remaining 45
- Moderate intellectual disabilityHPOHP:0002342
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Postural instabilityHPOHP:0002172
- 1 of 1 reported patient
- Respiratory insufficiencyHPOHP:0002093
- 3 of 3 reported patients · Neonatal onset
- 2 of 2 reported patients
- 4 of 4 reported patients
- ScoliosisHPOHP:0002650
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.
- COQ4HGNC:19693
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2015
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
- Also called
- coenzyme Q10 deficiency, primary, type 7COQ4-related neonatal encephalomyopathy