Combined oxidative phosphorylation deficiency 50
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 digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Dysphagia
- Abnormality of the endocrine system
- Adrenal insufficiency
Adrenal insufficiency
- MedGen UID: 1351
- Concept ID: C0001623
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Adrenal insufficiency
- Abnormality of the musculoskeletal system
- Developmental dysplasia of the hip
Developmental dysplasia of the hip
- MedGen UID: 1640560
- Concept ID: C4551649
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Poor head control
Poor head control
- MedGen UID: 322809
- Concept ID: C1836038
- Finding: Finding
Abnormality of the musculoskeletal system
- Developmental dysplasia of the hip
- Abnormality of the nervous system
- Brisk reflexes
Brisk reflexes
- MedGen UID: 382164
- Concept ID: C2673700
- Finding: Finding
Abnormality of the nervous system
- Delayed ability to crawl
Delayed ability to crawl
- MedGen UID: 1772845
- Concept ID: C5421628
- Finding: Finding
Abnormality of the nervous system
- Delayed ability to roll over
Delayed ability to roll over
- MedGen UID: 1718874
- Concept ID: C5397980
- Finding: Finding
Abnormality of the nervous system
- Delayed ability to walk
Delayed ability to walk
- MedGen UID: 66034
- Concept ID: C0241726
- Finding: Finding
Abnormality of the nervous system
- Generalized dystonia
Generalized dystonia
- MedGen UID: 341342
- Concept ID: C1848954
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Partial agenesis of the corpus callosum
Partial agenesis of the corpus callosum
- MedGen UID: 98127
- Concept ID: C0431368
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Brisk reflexes
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Fetal growth restriction
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