Mitochondrial complex 4 deficiency, nuclear type 17
- Synonyms
- MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17
Summary
Available tests
Clinical tests (9 available)
Clinical features
Help- Abnormal cellular phenotype
- Decreased activity of mitochondrial complex IV
Decreased activity of mitochondrial complex IV
- MedGen UID: 866520
- Concept ID: C4020800
- Finding: Finding
Abnormal cellular phenotype
- Decreased activity of mitochondrial complex IV
- Abnormality of the musculoskeletal system
- Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers
- MedGen UID: 867360
- Concept ID: C4021724
- Finding: Finding
Abnormality of the musculoskeletal system
- Cytochrome C oxidase-negative muscle fibers
- Abnormality of the nervous system
- Cavitating leukodystrophy
Cavitating leukodystrophy
- MedGen UID: 542952
- Concept ID: C0270725
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- Developmental regression
Developmental regression
- MedGen UID: 324613
- Concept ID: C1836830
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Sensorimotor neuropathy
Sensorimotor neuropathy
- MedGen UID: 207266
- Concept ID: C1112256
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Spastic tetraparesis
Spastic tetraparesis
- MedGen UID: 658719
- Concept ID: C0575059
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cavitating leukodystrophy
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