Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
Summary
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of metabolism/homeostasis
- Hyper-beta-alaninemia
Hyper-beta-alaninemia
- MedGen UID: 75702
- Concept ID: C0268630
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hyperammonemia
Hyperammonemia
- MedGen UID: 1802066
- Concept ID: C5574662
- Finding: Laboratory or Test Result
Abnormality of metabolism/homeostasis
- Hyperglutamatemia
Hyperglutamatemia
- MedGen UID: 1671048
- Concept ID: C4732903
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyperglycinemia
Hyperglycinemia
- MedGen UID: 82817
- Concept ID: C0268559
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hyperprolinemia
Hyperprolinemia
- MedGen UID: 75690
- Concept ID: C0268528
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypoargininemia
Hypoargininemia
- MedGen UID: 892673
- Concept ID: C4025095
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
Increased circulating lactate concentration
- MedGen UID: 332209
- Concept ID: C1836440
- Finding: Finding
Abnormality of metabolism/homeostasis
- Lactic acidosis
Lactic acidosis
- MedGen UID: 1717
- Concept ID: C0001125
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Low plasma citrulline
Low plasma citrulline
- MedGen UID: 326522
- Concept ID: C1839532
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyper-beta-alaninemia
- Abnormality of the digestive system
- Chronic diarrhea
Chronic diarrhea
- MedGen UID: 96036
- Concept ID: C0401151
- Finding: Finding
Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Chronic diarrhea
- Abnormality of the genitourinary system
- Oroticaciduria
Oroticaciduria
- MedGen UID: 78642
- Concept ID: C0268128
- Finding: Finding
Abnormality of the genitourinary system
- Oroticaciduria
- Abnormality of the nervous system
- Absent speech
Absent speech
- MedGen UID: 340737
- Concept ID: C1854882
- Finding: Finding
Abnormality of the nervous system
- Acute encephalopathy
Acute encephalopathy
- MedGen UID: 224930
- Concept ID: C1306587
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral palsy
Cerebral palsy
- MedGen UID: 854
- Concept ID: C0007789
- 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
- Generalized dystonia
Generalized dystonia
- MedGen UID: 341342
- Concept ID: C1848954
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- 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
- Paraparesis
Paraparesis
- MedGen UID: 113150
- Concept ID: C0221166
- Finding: Sign or Symptom
Abnormality of the nervous system
- Spastic ataxia
Spastic ataxia
- MedGen UID: 376528
- Concept ID: C1849156
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Spastic tetraparesis
Spastic tetraparesis
- MedGen UID: 658719
- Concept ID: C0575059
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Absent speech
- 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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