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Items: 3

1.

Pain

MedGen UID:
880950
Concept ID:
CN236637
Disease or Syndrome
2.

Pain

MedGen UID:
776584
Concept ID:
C2364139
Finding
3.

Navajo neurohepatopathy

MPV17-related hepatocerebral mitochondrial DNA (mtDNA) depletion syndrome is characterized by infantile-onset liver dysfunction that typically progresses to liver failure; neurologic involvement (developmental delay, hypotonia, and muscle weakness in the majority; ataxia, seizures, and motor and sensory peripheral neuropathy in some); failure to thrive; and metabolic derangements including lactic acidosis and hypoglycemic crises. Less frequent manifestations include renal tubulopathy, hypoparathyroidism, gastrointestinal dysmotility, and corneal anesthesia. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported. [from GeneReviews]

MedGen UID:
338045
Concept ID:
C1850406
Disease or Syndrome
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