Mitochondrial complex 1 deficiency, nuclear type 12
- Synonyms
- MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
Available tests
Clinical tests (19 available)
Genes See tests for all associated and related genes
Also known as: CI-MWFE, MC1DN12, MWFE, ZNF183, NDUFA1
Summary: NADH:ubiquinone oxidoreductase subunit A1
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
- Increased circulating lactate concentration
Increased circulating lactate concentration
- MedGen UID: 332209
- Concept ID: C1836440
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
- Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Rod-cone dystrophy
Rod-cone dystrophy
- MedGen UID: 1632921
- Concept ID: C4551714
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
- Abnormality of the musculoskeletal system
- Axial hypotonia
Axial hypotonia
- MedGen UID: 342959
- Concept ID: C1853743
- Finding: Finding
Abnormality of the musculoskeletal system
- Frequent falls
Frequent falls
- MedGen UID: 163408
- Concept ID: C0850703
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Proximal muscle weakness
Proximal muscle weakness
- MedGen UID: 113169
- Concept ID: C0221629
- Finding: Finding
Abnormality of the musculoskeletal system
- Axial hypotonia
- Abnormality of the nervous system
- Aphasia
Aphasia
- MedGen UID: 8159
- Concept ID: C0003537
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Bilateral tonic-clonic seizure
Bilateral tonic-clonic seizure
- MedGen UID: 141670
- Concept ID: C0494475
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
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
- Delayed ability to walk
Delayed ability to walk
- MedGen UID: 66034
- Concept ID: C0241726
- Finding: Finding
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
- Dementia
Dementia
- MedGen UID: 99229
- Concept ID: C0497327
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Gait imbalance
Gait imbalance
- MedGen UID: 373028
- Concept ID: C1836150
- Finding: Finding
Abnormality of the nervous system
- Generalized myoclonic seizure
Generalized myoclonic seizure
- MedGen UID: 892704
- Concept ID: C4021759
- 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
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
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
- Myoclonus
Myoclonus
- MedGen UID: 10234
- Concept ID: C0027066
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Unsteady gait
Unsteady gait
- MedGen UID: 68544
- Concept ID: C0231686
- Finding: Finding
Abnormality of the nervous system
- Aphasia
- Ear malformation
- Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment
- MedGen UID: 335894
- Concept ID: C1843156
- Finding: Disease or Syndrome
Ear malformation
- Progressive sensorineural hearing impairment
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