Mitochondrial myopathy with a defect in mitochondrial-protein transport

Available tests

1 test is in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (1 available)

Molecular Genetics Tests

Sequence analysis of the entire coding region (1)

C Clinical test, R Research test, O OMIM, G GeneReviews

CROGHereditary hearing loss and deafness
- - CROGAlport syndrome
  - - - CROGAutosomal dominant Alport syndrome
      - CROGAutosomal recessive Alport syndrome
      - CROGX-linked Alport syndrome
  - CROGBiotinidase deficiency
  - CROGBranchiootorenal Spectrum Disorders
  - - - CROGBranchiootic syndrome 3
      - CROGBranchiootorenal syndrome 1
      - CROGBranchiootorenal syndrome 2
  - CROGDeafness dystonia syndrome
  - CROGJervell and Lange-Nielsen syndrome 1
  - - - CROGJervell and Lange-Nielsen syndrome 2
      - CROGLong QT syndrome 1
      - CROGLong QT syndrome 5
  - CROGMitochondrial disease
  - - - CROGComplex V deficiency
      - CROGMitochondrial complex V (ATP synthase) deficiency nuclear type 2
        CROGMitochondrial complex V (ATP synthase) deficiency nuclear type 3
        CROGMitochondrial complex V (ATP synthase) deficiency, nuclear type 1
      - CROGLeigh syndrome
      - CROGCongenital lactic acidosis, Saguenay-Lac-Saint-Jean type
        CROGCongenital myasthenic syndrome 16
        CROGLeigh Syndrome (nuclear DNA mutation)
        CROGLeigh syndrome due to mitochondrial complex I deficiency
        CROGLeigh syndrome due to mitochondrial complex II deficiency
        CROGLeigh syndrome due to mitochondrial complex III deficiency
        CROGLeigh syndrome due to mitochondrial complex V deficiency
        CROGMaternally-inherited Leigh syndrome
        CROGNecrotizing encephalomyelopathy, subacute, of Leigh, adult
        CROGPyruvate carboxylase deficiency
        CROGPyruvate dehydrogenase complex deficiency
      - CROGMitochondrial complex I deficiency
      - CROGMitochondrial complex 1 deficiency, mitochondrial type 1
        CROGMitochondrial complex I deficiency, nuclear type 1
      - CROGMitochondrial complex II deficiency, nuclear type 1
      - CROGMitochondrial complex III deficiency nuclear type 1
      - CROGMitochondrial complex IV deficiency, nuclear type 1
      - CROGMitochondrial DNA Deletion Syndromes
      - CROGKearns-Sayre syndrome
        CROGMitochondrial DNA depletion syndrome 11
        CROGMitochondrial DNA depletion syndrome 15 (hepatocerebral type)
        CROGMitochondrial DNA depletion syndrome, encephalomyopathic form
        CROGPearson syndrome
        CROGProgressive external ophthalmoplegia
      - CROGMitochondrial myopathy with a defect in mitochondrial-protein transport
      - CROGMitochondrial non-syndromic sensorineural hearing loss
      - CROGNARP syndrome
      - CROGStriatonigral degeneration, infantile, mitochondrial
  - CROGNeurofibromatosis, type 2
  - CROGNonsyndromic genetic hearing loss
  - - - CROGAutosomal dominant nonsyndromic hearing loss
      - CROGAutosomal dominant nonsyndromic hearing loss 1
        CROGAutosomal dominant nonsyndromic hearing loss 5
        CROGAutosomal dominant nonsyndromic hearing loss 6
        CROGAutosomal dominant nonsyndromic hearing loss 7
        CROGAutosomal dominant nonsyndromic hearing loss 9
        CROGAutosomal dominant nonsyndromic hearing loss 10
        CROGAutosomal dominant nonsyndromic hearing loss 11
        CROGAutosomal dominant nonsyndromic hearing loss 12
        CROGAutosomal dominant nonsyndromic hearing loss 13
        CROGAutosomal dominant nonsyndromic hearing loss 15
        CROGAutosomal dominant nonsyndromic hearing loss 16
        CROGAutosomal dominant nonsyndromic hearing loss 17
        CROGAutosomal dominant nonsyndromic hearing loss 18
        CROGAutosomal dominant nonsyndromic hearing loss 20
        CROGAutosomal dominant nonsyndromic hearing loss 21
        CROGAutosomal dominant nonsyndromic hearing loss 22
        CROGAutosomal dominant nonsyndromic hearing loss 23
        CROGAutosomal dominant nonsyndromic hearing loss 24
        CROGAutosomal dominant nonsyndromic hearing loss 25
        CROGAutosomal dominant nonsyndromic hearing loss 27
        CROGAutosomal dominant nonsyndromic hearing loss 28
        CROGAutosomal dominant nonsyndromic hearing loss 2A
        CROGAutosomal dominant nonsyndromic hearing loss 2B
        CROGAutosomal dominant nonsyndromic hearing loss 30
        CROGAutosomal dominant nonsyndromic hearing loss 31
        CROGAutosomal dominant nonsyndromic hearing loss 33
        CROGAutosomal dominant nonsyndromic hearing loss 36
        CROGAutosomal dominant nonsyndromic hearing loss 41
        CROGAutosomal dominant nonsyndromic hearing loss 43
        CROGAutosomal dominant nonsyndromic hearing loss 44
        CROGAutosomal dominant nonsyndromic hearing loss 47
        CROGAutosomal dominant nonsyndromic hearing loss 48
        CROGAutosomal dominant nonsyndromic hearing loss 49
        CROGAutosomal dominant nonsyndromic hearing loss 4A
        CROGAutosomal dominant nonsyndromic hearing loss 50
        CROGAutosomal dominant nonsyndromic hearing loss 51
        CROGAutosomal dominant nonsyndromic hearing loss 52
        CROGAutosomal dominant nonsyndromic hearing loss 53
        CROGAutosomal dominant nonsyndromic hearing loss 59
        CROGAutosomal dominant nonsyndromic hearing loss 64
      - CROGNonsyndromic Hearing Loss and Deafness, Autosomal Recessive
      - CROGAutosomal recessive nonsyndromic hearing loss 2
        CROGAutosomal recessive nonsyndromic hearing loss 3
        CROGAutosomal recessive nonsyndromic hearing loss 4
        CROGAutosomal recessive nonsyndromic hearing loss 5
        CROGAutosomal recessive nonsyndromic hearing loss 6
        CROGAutosomal recessive nonsyndromic hearing loss 7
        CROGAutosomal recessive nonsyndromic hearing loss 8
        CROGAutosomal recessive nonsyndromic hearing loss 9
        CROGAutosomal recessive nonsyndromic hearing loss 12
        CROGAutosomal recessive nonsyndromic hearing loss 13
        CROGAutosomal recessive nonsyndromic hearing loss 14
        CROGAutosomal recessive nonsyndromic hearing loss 15
        CROGAutosomal recessive nonsyndromic hearing loss 16
        CROGAutosomal recessive nonsyndromic hearing loss 17
        CROGAutosomal recessive nonsyndromic hearing loss 18A
        CROGAutosomal recessive nonsyndromic hearing loss 1A
        CROGAutosomal recessive nonsyndromic hearing loss 1B
        CROGAutosomal recessive nonsyndromic hearing loss 20
        CROGAutosomal recessive nonsyndromic hearing loss 21
        CROGAutosomal recessive nonsyndromic hearing loss 22
        CROGAutosomal recessive nonsyndromic hearing loss 23
        CROGAutosomal recessive nonsyndromic hearing loss 24
        CROGAutosomal recessive nonsyndromic hearing loss 25
        CROGAutosomal recessive nonsyndromic hearing loss 26
        CROGAutosomal recessive nonsyndromic hearing loss 27
        CROGAutosomal recessive nonsyndromic hearing loss 28
        CROGAutosomal recessive nonsyndromic hearing loss 29
        CROGAutosomal recessive nonsyndromic hearing loss 30
        CROGAutosomal recessive nonsyndromic hearing loss 31
        CROGAutosomal recessive nonsyndromic hearing loss 32
        CROGAutosomal recessive nonsyndromic hearing loss 33
        CROGAutosomal recessive nonsyndromic hearing loss 35
        CROGAutosomal recessive nonsyndromic hearing loss 36
        CROGAutosomal recessive nonsyndromic hearing loss 37
        CROGAutosomal recessive nonsyndromic hearing loss 38
        CROGAutosomal recessive nonsyndromic hearing loss 39
        CROGAutosomal recessive nonsyndromic hearing loss 40
        CROGAutosomal recessive nonsyndromic hearing loss 42
        CROGAutosomal recessive nonsyndromic hearing loss 44
        CROGAutosomal recessive nonsyndromic hearing loss 45
        CROGAutosomal recessive nonsyndromic hearing loss 46
        CROGAutosomal recessive nonsyndromic hearing loss 47
        CROGAutosomal recessive nonsyndromic hearing loss 48
        CROGAutosomal recessive nonsyndromic hearing loss 49
        CROGAutosomal recessive nonsyndromic hearing loss 51
        CROGAutosomal recessive nonsyndromic hearing loss 53
        CROGAutosomal recessive nonsyndromic hearing loss 55
        CROGAutosomal recessive nonsyndromic hearing loss 59
        CROGAutosomal recessive nonsyndromic hearing loss 61
        CROGAutosomal recessive nonsyndromic hearing loss 62
        CROGAutosomal recessive nonsyndromic hearing loss 63
        CROGAutosomal recessive nonsyndromic hearing loss 65
        CROGAutosomal recessive nonsyndromic hearing loss 66
        CROGAutosomal recessive nonsyndromic hearing loss 67
        CROGAutosomal recessive nonsyndromic hearing loss 68
        CROGAutosomal recessive nonsyndromic hearing loss 71
        CROGAutosomal recessive nonsyndromic hearing loss 74
        CROGAutosomal recessive nonsyndromic hearing loss 77
        CROGAutosomal recessive nonsyndromic hearing loss 79
        CROGAutosomal recessive nonsyndromic hearing loss 83
        CROGAutosomal recessive nonsyndromic hearing loss 84A
        CROGAutosomal recessive nonsyndromic hearing loss 85
        CROGAutosomal recessive nonsyndromic hearing loss 89
        CROGAutosomal recessive nonsyndromic hearing loss 91
        CROGAutosomal recessive nonsyndromic hearing loss 96
        CROGChudley-McCullough syndrome
        CROGDeafness, autosomal recessive 12, modifier of
        CROGPerrault syndrome 3
      - CROGX-linked deafness
      - CROGX-linked mixed hearing loss with perilymphatic gusher
  - CROGStickler syndrome
  - - - CROGOtospondylomegaepiphyseal dysplasia, autosomal dominant
      - CROGStickler syndrome type 1
      - CROGStickler syndrome type 2
      - CROGStickler syndrome, type 4
      - CROGStickler syndrome, type 5
  - CROGUsher syndrome
  - - - CROGUsher syndrome type 1
      - CROGUsher syndrome type 1B
        CROGUsher syndrome type 1C
        CROGUsher syndrome type 1D
        CROGUsher syndrome type 1E
        CROGUsher syndrome type 1F
        CROGUsher syndrome type 1G
        CROGUsher syndrome type 1H
      - CROGUsher syndrome type 2
      - CROGUsher syndrome type 3
      - CROGUsher syndrome type 3A
        CROGUsher syndrome type 3B
  - CROGWaardenburg syndrome type 1
  - CROGWaardenburg syndrome type 2
  - - - CROGWaardenburg syndrome type 2A
      - CROGWaardenburg syndrome type 2B
      - CROGWaardenburg syndrome type 2C
      - CROGWaardenburg syndrome type 2D
      - CROGWaardenburg syndrome type 2E
      - CROGWaardenburg syndrome type 2E, with neurologic involvement
        CROGWaardenburg syndrome type 2E, without neurologic involvement
  - CROGWaardenburg syndrome type 3
  - CROGWaardenburg syndrome type 4A
  - CROGWaardenburg syndrome type 4B
  - CROGWaardenburg syndrome type 4C

Imported from Human Phenotype Ontology (HPO)

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Abnormality of metabolism/homeostasis
- Abnormality of metabolism/homeostasis
  Abnormality of metabolism/homeostasis
  - MedGen UID: 867398
  - Concept ID: C4021768
  - Finding: Finding
  Abnormality of metabolism/homeostasis
  See: Feature record | Search on this feature
Abnormality of the musculoskeletal system
- Inborn mitochondrial myopathy
  Inborn mitochondrial myopathy
  - MedGen UID: 56484
  - Concept ID: C0162670
  - Finding: Disease or Syndrome
  Abnormality of the musculoskeletal system
  See: Feature record | Search on this feature
- Muscle weakness
  Muscle weakness
  - MedGen UID: 57735
  - Concept ID: C0151786
  - Finding: Finding
  Abnormality of the musculoskeletal system
  See: Feature record | Search on this feature
Constitutional symptom
- Exercise intolerance
  Exercise intolerance
  - MedGen UID: 603270
  - Concept ID: C0424551
  - Finding: Finding
  Constitutional symptom
  See: Feature record | Search on this feature

Available tests

Clinical tests (1 available)

Molecular Genetics Tests

Clinical features

Abnormality of metabolism/homeostasis

Inborn mitochondrial myopathy

Muscle weakness

Exercise intolerance

Reviews

Clinical resources

Molecular resources

Consumer resources