mitochondrial complex I deficiency, nuclear type 27
MONDO:0032631Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 27 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
HPO, annotations 2026-09-02
Features
9 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.
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- AtaxiaHPOHP:0001251
- 1 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 1 of 2 reported patients
- Neurogenic bladderHPOHP:0000011
- 1 of 2 reported patients
- Optic atrophyHPOHP:0000648
- 1 of 2 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 1 of 2 reported patients
- Vertical supranuclear gaze palsyHPOHP:0000511
- 1 of 2 reported patients