Multiple mitochondrial dysfunctions syndrome 7
Summary
Available tests
Clinical tests (1 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Thrombocytopenia
Thrombocytopenia
- MedGen UID: 52737
- Concept ID: C0040034
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Thrombocytopenia
- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Gingival overgrowth
Gingival overgrowth
- MedGen UID: 87712
- Concept ID: C0376480
- Finding: Finding
Abnormality of head or neck
- Open mouth
Open mouth
- MedGen UID: 116104
- Concept ID: C0240379
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- Abnormality of limbs
- Ankle clonus
Ankle clonus
- MedGen UID: 68672
- Concept ID: C0238651
- Finding: Finding
Abnormality of limbs
- Ankle clonus
- Abnormality of metabolism/homeostasis
- Hyperglycemia
Hyperglycemia
- MedGen UID: 5689
- Concept ID: C0020456
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hyperglycinemia
Hyperglycinemia
- MedGen UID: 82817
- Concept ID: C0268559
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypernatremia
Hypernatremia
- MedGen UID: 6966
- Concept ID: C0020488
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypoglycemia
Hypoglycemia
- MedGen UID: 6979
- Concept ID: C0020615
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Metabolic acidosis
Metabolic acidosis
- MedGen UID: 65117
- Concept ID: C0220981
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Hyperglycemia
- Abnormality of the cardiovascular system
- Partial atrioventricular canal
Partial atrioventricular canal
- MedGen UID: 868879
- Concept ID: C4023290
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Partial atrioventricular canal
- Abnormality of the digestive system
- Decreased liver function
Decreased liver function
- MedGen UID: 65430
- Concept ID: C0232744
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Poor suck
Poor suck
- MedGen UID: 324693
- Concept ID: C1837142
- Finding: Finding
Abnormality of the digestive system
- Decreased liver function
- Abnormality of the integument
- Cyanosis
Cyanosis
- MedGen UID: 1189
- Concept ID: C0010520
- Finding: Sign or Symptom
Abnormality of the integument
- Cyanosis
- Abnormality of the musculoskeletal system
- Axial hypotonia
Axial hypotonia
- MedGen UID: 342959
- Concept ID: C1853743
- Finding: Finding
Abnormality of the musculoskeletal system
- Dolichocephaly
Dolichocephaly
- MedGen UID: 65142
- Concept ID: C0221358
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hypertonia
Hypertonia
- MedGen UID: 10132
- Concept ID: C0026826
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Secondary microcephaly
Secondary microcephaly
- MedGen UID: 608952
- Concept ID: C0431352
- Finding: Finding
Abnormality of the musculoskeletal system
- Axial hypotonia
- Abnormality of the nervous system
- Abnormal diffusion weighted cerebral MRI morphology
Abnormal diffusion weighted cerebral MRI morphology
- MedGen UID: 1716407
- Concept ID: C5397636
- Finding: Finding
Abnormality of the nervous system
- Agitation
Agitation
- MedGen UID: 88447
- Concept ID: C0085631
- Finding: Sign or Symptom
Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- Finding: Finding
Abnormality of the nervous system
- Autistic behavior
Autistic behavior
- MedGen UID: 163547
- Concept ID: C0856975
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Coma
Coma
- MedGen UID: 1054
- Concept ID: C0009421
- 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
- EEG with burst suppression
EEG with burst suppression
- MedGen UID: 369943
- Concept ID: C1969156
- Finding: Finding
Abnormality of the nervous system
- Elevated brain glycine level by MRS
Elevated brain glycine level by MRS
- MedGen UID: 1842032
- Concept ID: C5826743
- Finding: Finding
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
- Exaggerated startle response
Exaggerated startle response
- MedGen UID: 329357
- Concept ID: C1740801
- Finding: Finding
Abnormality of the nervous system
- Focal-onset seizure
Focal-onset seizure
- MedGen UID: 199670
- Concept ID: C0751495
- 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
- Hallucinations
Hallucinations
- MedGen UID: 6709
- Concept ID: C0018524
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Hyperactivity
Hyperactivity
- MedGen UID: 98406
- Concept ID: C0424295
- Finding: Finding
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Hypoplasia of the corpus callosum
Hypoplasia of the corpus callosum
- MedGen UID: 138005
- Concept ID: C0344482
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Hypsarrhythmia
Hypsarrhythmia
- MedGen UID: 195766
- Concept ID: C0684276
- Finding: Finding
Abnormality of the nervous system
- Impulsivity
Impulsivity
- MedGen UID: 43850
- Concept ID: C0021125
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Increased CSF glycine concentration
Increased CSF glycine concentration
- MedGen UID: 1691638
- Concept ID: C5139615
- Finding: Finding
Abnormality of the nervous system
- Infantile spasms
Infantile spasms
- MedGen UID: 854616
- Concept ID: C3887898
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Irritability
Irritability
- MedGen UID: 397841
- Concept ID: C2700617
- Finding: Mental Process
Abnormality of the nervous system
- Lethargy
Lethargy
- MedGen UID: 7310
- Concept ID: C0023380
- Finding: Sign or Symptom
Abnormality of the nervous system
- Multifocal seizures
Multifocal seizures
- MedGen UID: 482664
- Concept ID: C3281034
- Finding: Finding
Abnormality of the nervous system
- Myoclonic seizure
Myoclonic seizure
- MedGen UID: 1385980
- Concept ID: C4317123
- Finding: Sign or Symptom
Abnormality of the nervous system
- Myoclonus
Myoclonus
- MedGen UID: 10234
- Concept ID: C0027066
- Finding: Finding
Abnormality of the nervous system
- Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS
- MedGen UID: 868367
- Concept ID: C4022761
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Thin corpus callosum
Thin corpus callosum
- MedGen UID: 1785336
- Concept ID: C5441562
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Abnormal diffusion weighted cerebral MRI morphology
- Abnormality of the respiratory system
- Apnea
Apnea
- MedGen UID: 2009
- Concept ID: C0003578
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Respiratory failure requiring assisted ventilation
Respiratory failure requiring assisted ventilation
- MedGen UID: 870821
- Concept ID: C4025279
- Finding: Finding
Abnormality of the respiratory system
- Apnea
- Constitutional symptom
- Recurrent singultus
Recurrent singultus
- MedGen UID: 893074
- Concept ID: C0744897
- Finding: Finding
Constitutional symptom
- Recurrent singultus
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