Mitochondrial complex 1 deficiency, nuclear type 28
- Synonyms
- MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28
Available tests
Clinical tests (5 available)
Clinical features
Help- Abnormal cellular phenotype
- Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I
- MedGen UID: 393796
- Concept ID: C2677650
- Finding: Finding
Abnormal cellular phenotype
- Decreased activity of mitochondrial complex I
- Abnormality of metabolism/homeostasis
- Hyper-beta-alaninemia
Hyper-beta-alaninemia
- MedGen UID: 75702
- Concept ID: C0268630
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
Increased circulating lactate concentration
- MedGen UID: 332209
- Concept ID: C1836440
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyper-beta-alaninemia
- Abnormality of the digestive system
- Gastroesophageal reflux
Gastroesophageal reflux
- MedGen UID: 1368658
- Concept ID: C4317146
- Finding: Finding
Abnormality of the digestive system
- Gastroesophageal reflux
- Abnormality of the eye
- Optic atrophy
Optic atrophy
- MedGen UID: 18180
- Concept ID: C0029124
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic disc pallor
Optic disc pallor
- MedGen UID: 108218
- Concept ID: C0554970
- Finding: Finding
Abnormality of the eye
- Optic neuropathy
Optic neuropathy
- MedGen UID: 854546
- Concept ID: C3887709
- Finding: Disease or Syndrome
Abnormality of the eye
- Slow saccadic eye movements
Slow saccadic eye movements
- MedGen UID: 232942
- Concept ID: C1321329
- Finding: Finding
Abnormality of the eye
- Optic atrophy
- Abnormality of the musculoskeletal system
- Axial hypotonia
Axial hypotonia
- MedGen UID: 342959
- Concept ID: C1853743
- 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
- Axial hypotonia
- Abnormality of the nervous system
- Abnormal pyramidal sign
Abnormal pyramidal sign
- MedGen UID: 68582
- Concept ID: C0234132
- Finding: Sign or Symptom
Abnormality of the nervous system
- Akinesia
Akinesia
- MedGen UID: 43218
- Concept ID: C0085623
- Finding: Finding
Abnormality of the nervous system
- Cerebellar atrophy
Cerebellar atrophy
- MedGen UID: 196624
- Concept ID: C0740279
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Choreoathetosis
Choreoathetosis
- MedGen UID: 39313
- Concept ID: C0085583
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dyskinesia
Dyskinesia
- MedGen UID: 8514
- Concept ID: C0013384
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Generalized-onset seizure
Generalized-onset seizure
- MedGen UID: 115963
- Concept ID: C0234533
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Lower limb spasticity
Lower limb spasticity
- MedGen UID: 220865
- Concept ID: C1271100
- Finding: Finding
Abnormality of the nervous system
- Poor speech
Poor speech
- MedGen UID: 341172
- Concept ID: C1848207
- Finding: Finding
Abnormality of the nervous system
- Reduced eye contact
Reduced eye contact
- MedGen UID: 303190
- Concept ID: C1445953
- Finding: Finding
Abnormality of the nervous system
- Truncal ataxia
Truncal ataxia
- MedGen UID: 96535
- Concept ID: C0427190
- Finding: Sign or Symptom
Abnormality of the nervous system
- Abnormal pyramidal sign
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Failure to thrive
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