Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
- Synonyms
- Mitochondrial complex V (ATP synthase) deficiency nuclear type 4
Summary
Available tests
Clinical tests (12 available)
Clinical features
Help- Abnormal cellular phenotype
- Decreased activity of mitochondrial ATP synthase complex
Decreased activity of mitochondrial ATP synthase complex
- MedGen UID: 892442
- Concept ID: C4023125
- Finding: Finding
Abnormal cellular phenotype
- Decreased activity of mitochondrial ATP synthase complex
- Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
- Abnormality of the genitourinary system
- 3-Methylglutaconic aciduria
3-Methylglutaconic aciduria
- MedGen UID: 777186
- Concept ID: C3696376
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- 3-Methylglutaconic aciduria
- Abnormality of the nervous system
- Cerebellar hypoplasia
Cerebellar hypoplasia
- MedGen UID: 120578
- Concept ID: C0266470
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Encephalopathy
Encephalopathy
- MedGen UID: 39314
- Concept ID: C0085584
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Irritability
Irritability
- MedGen UID: 397841
- Concept ID: C2700617
- Finding: Mental Process
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebellar hypoplasia
- Abnormality of the respiratory system
- Apnea
Apnea
- MedGen UID: 2009
- Concept ID: C0003578
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Pulmonary hypoplasia
Pulmonary hypoplasia
- MedGen UID: 78574
- Concept ID: C0265783
- Finding: Congenital Abnormality
Abnormality of the respiratory system
- Apnea
- Abnormality of the voice
- High-pitched cry
High-pitched cry
- MedGen UID: 116082
- Concept ID: C0239154
- Finding: Finding
Abnormality of the voice
- High-pitched cry
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