Mitochondrial complex 2 deficiency, nuclear type 4
- Synonyms
- MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4
Summary
Available tests
Clinical tests (11 available)
Clinical features
Help- Abnormal cellular phenotype
- Decreased activity of mitochondrial complex II
Decreased activity of mitochondrial complex II
- MedGen UID: 892305
- Concept ID: C4024705
- Finding: Finding
Abnormal cellular phenotype
- Decreased activity of mitochondrial complex II
- 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 serum pyruvate
Increased serum pyruvate
- MedGen UID: 376596
- Concept ID: C1849488
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
- Abnormality of the digestive system
- Feeding difficulties in infancy
Feeding difficulties in infancy
- MedGen UID: 436211
- Concept ID: C2674608
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties in infancy
- Abnormality of the genitourinary system
- Increased urine alpha-ketoglutarate concentration
Increased urine alpha-ketoglutarate concentration
- MedGen UID: 868516
- Concept ID: C4022915
- Finding: Finding
Abnormality of the genitourinary system
- Increased urine alpha-ketoglutarate concentration
- Abnormality of the musculoskeletal system
- Axial hypotonia
Axial hypotonia
- MedGen UID: 342959
- Concept ID: C1853743
- Finding: Finding
Abnormality of the musculoskeletal system
- Flexion contracture
Flexion contracture
- MedGen UID: 83069
- Concept ID: C0333068
- Finding: Anatomical Abnormality
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
- 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
- Axial hypotonia
- 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 ability to sit
Delayed ability to sit
- MedGen UID: 1368737
- Concept ID: C4476710
- Finding: Finding
Abnormality of the nervous system
- Delayed ability to stand
Delayed ability to stand
- MedGen UID: 1370611
- Concept ID: C4476709
- 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
- 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
- Dystonic disorder
Dystonic disorder
- MedGen UID: 3940
- Concept ID: C0013421
- Finding: Sign or Symptom
Abnormality of the nervous system
- Elevated brain lactate level by MRS
Elevated brain lactate level by MRS
- MedGen UID: 868368
- Concept ID: C4022762
- Finding: Finding
Abnormality of the nervous system
- Falls
Falls
- MedGen UID: 39084
- Concept ID: C0085639
- Finding: Finding
Abnormality of the nervous system
- Febrile seizure (within the age range of 3 months to 6 years)
Febrile seizure (within the age range of 3 months to 6 years)
- MedGen UID: 3232
- Concept ID: C0009952
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Hyperintensity of cerebral white matter on MRI
Hyperintensity of cerebral white matter on MRI
- MedGen UID: 811125
- Concept ID: C2938912
- Finding: Pathologic Function
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Irritability
Irritability
- MedGen UID: 397841
- Concept ID: C2700617
- Finding: Mental Process
Abnormality of the nervous system
- Leukodystrophy
Leukodystrophy
- MedGen UID: 6070
- Concept ID: C0023520
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebellar ataxia
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