Mitochondrial complex 1 deficiency, nuclear type 35
- Synonyms
- MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35
Available tests
Clinical tests (2 available)
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 head or neck
- Redundant neck skin
Redundant neck skin
- MedGen UID: 374440
- Concept ID: C1840319
- Finding: Finding
Abnormality of head or neck
- Redundant neck skin
- Abnormality of metabolism/homeostasis
- Elevated lactate:pyruvate ratio
Elevated lactate:pyruvate ratio
- MedGen UID: 1717835
- Concept ID: C5397670
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyper-beta-alaninemia
Hyper-beta-alaninemia
- MedGen UID: 75702
- Concept ID: C0268630
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hyperprolinemia
Hyperprolinemia
- MedGen UID: 75690
- Concept ID: C0268528
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Lactic acidosis
Lactic acidosis
- MedGen UID: 1717
- Concept ID: C0001125
- 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
- Elevated lactate:pyruvate ratio
- Abnormality of prenatal development or birth
- Non-immune hydrops fetalis
Non-immune hydrops fetalis
- MedGen UID: 105327
- Concept ID: C0455988
- Finding: Disease or Syndrome
Abnormality of prenatal development or birth
- Non-immune hydrops fetalis
- Abnormality of the cardiovascular system
- Cardiomyopathy
Cardiomyopathy
- MedGen UID: 209232
- Concept ID: C0878544
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Pulmonary arterial hypertension
Pulmonary arterial hypertension
- MedGen UID: 425404
- Concept ID: C2973725
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Cardiomyopathy
- Abnormality of the genitourinary system
- Elevated urinary 4-hydroxybutyric acid
Elevated urinary 4-hydroxybutyric acid
- MedGen UID: 1697012
- Concept ID: C5139403
- Finding: Finding
Abnormality of the genitourinary system
- Lacticaciduria
Lacticaciduria
- MedGen UID: 871116
- Concept ID: C4025585
- Finding: Finding
Abnormality of the genitourinary system
- Elevated urinary 4-hydroxybutyric acid
- Abnormality of the respiratory system
- Neonatal respiratory distress
Neonatal respiratory distress
- MedGen UID: 924182
- Concept ID: C4281993
- Finding: Finding
Abnormality of the respiratory system
- Pulmonary hypoplasia
Pulmonary hypoplasia
- MedGen UID: 78574
- Concept ID: C0265783
- Finding: Congenital Abnormality
Abnormality of the respiratory system
- Neonatal respiratory distress
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Fetal growth restriction
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