mitochondrial complex IV deficiency, nuclear type 24
MONDO:0980755Mondo
Findings
No curated finding names mitochondrial complex IV deficiency, nuclear type 24 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 · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
49 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.
- Abnormal subthalamic nucleus morphologyHPOHP:0025737
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed fine motor developmentHPOHP:0010862
- 1 of 1 reported patient
- Delayed gross motor developmentHPOHP:0002194
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
- 2 of 2 reported patients
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Elevated brain lactate level by MRSHPOHP:0012707
- 1 of 1 reported patient
- EsodeviationHPOHP:0020045
- 1 of 1 reported patient
- EsotropiaHPOHP:0000565
- 1 of 1 reported patient
- Exercise intoleranceHPOHP:0003546
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- GastroparesisHPOHP:0002578
- 1 of 1 reported patient
Show the remaining 37
- Gaze-evoked horizontal nystagmusHPOHP:0007979
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Impaired executive functioningHPOHP:0033051
- 1 of 1 reported patient
- Increased circulating lactate concentrationHPOHP:0002151
- 2 of 2 reported patients
- Increased CSF lactateHPOHP:0002490
- 1 of 1 reported patient
- LethargyHPOHP:0001254
- 1 of 1 reported patient