Combined oxidative phosphorylation deficiency 19
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (9 available)
Genes See tests for all associated and related genes
Also known as: C6orf149, CGI-203, COXPD19, ISD11, LYRM4
Summary: LYR motif containing 4
Clinical features
Help- Abnormal cellular phenotype
- Mitochondrial swelling
Mitochondrial swelling
- MedGen UID: 7664
- Concept ID: C0026244
- Finding: Cell or Molecular Dysfunction
Abnormal cellular phenotype
- Mitochondrial swelling
- Abnormality of metabolism/homeostasis
- Elevated circulating alanine aminotransferase concentration
Elevated circulating alanine aminotransferase concentration
- MedGen UID: 57740
- Concept ID: C0151905
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating aspartate aminotransferase concentration
Elevated circulating aspartate aminotransferase concentration
- MedGen UID: 57497
- Concept ID: C0151904
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated gamma-glutamyltransferase level
Elevated gamma-glutamyltransferase level
- MedGen UID: 1370086
- Concept ID: C4476869
- Finding: Finding
Abnormality of metabolism/homeostasis
- Ketosis
Ketosis
- MedGen UID: 7206
- Concept ID: C0022638
- 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 circulating alanine aminotransferase concentration
- Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Gastroesophageal reflux
Gastroesophageal reflux
- MedGen UID: 1368658
- Concept ID: C4317146
- Finding: Finding
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Macrovesicular hepatic steatosis
Macrovesicular hepatic steatosis
- MedGen UID: 373290
- Concept ID: C1837256
- Finding: Finding
Abnormality of the digestive system
- Microvesicular hepatic steatosis
Microvesicular hepatic steatosis
- MedGen UID: 376784
- Concept ID: C1850415
- Finding: Finding
Abnormality of the digestive system
- Poor suck
Poor suck
- MedGen UID: 324693
- Concept ID: C1837142
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties
- Abnormality of the genitourinary system
- Lacticaciduria
Lacticaciduria
- MedGen UID: 871116
- Concept ID: C4025585
- Finding: Finding
Abnormality of the genitourinary system
- Lacticaciduria
- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter
- MedGen UID: 336019
- Concept ID: C1843700
- Finding: Finding
Abnormality of the musculoskeletal system
- Neonatal hypotonia
Neonatal hypotonia
- MedGen UID: 412209
- Concept ID: C2267233
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Poor head control
Poor head control
- MedGen UID: 322809
- Concept ID: C1836038
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
- 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
- Increased CSF lactate
Increased CSF lactate
- MedGen UID: 257904
- Concept ID: C1167918
- Finding: Finding
Abnormality of the nervous system
- Lower limb hyperreflexia
Lower limb hyperreflexia
- MedGen UID: 322973
- Concept ID: C1836696
- Finding: Finding
Abnormality of the nervous system
- Persistent head lag
Persistent head lag
- MedGen UID: 256151
- Concept ID: C1141883
- Finding: Finding
Abnormality of the nervous system
- Elevated brain lactate level by MRS
- Abnormality of the respiratory system
- Respiratory distress
Respiratory distress
- MedGen UID: 96907
- Concept ID: C0476273
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Stridor
Stridor
- MedGen UID: 11613
- Concept ID: C0038450
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Respiratory distress
- Abnormality of the voice
- Weak cry
Weak cry
- MedGen UID: 65892
- Concept ID: C0234860
- Finding: Finding
Abnormality of the voice
- Weak cry
- 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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