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Items: 3

1.

Hyperpipecolatemia

A rare, autosomal recessive inherited metabolic disorder characterized by high levels of pipecolic acid in the blood, leading to neuropathy and hepatomegaly. [from NCI]

MedGen UID:
79469
Concept ID:
C0282526
Disease or Syndrome
2.

Neonatal adrenoleucodystrophy

A rare metabolic disorder that affects neonates. It is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. It manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma. [from NCI]

MedGen UID:
129184
Concept ID:
C0282525
Disease or Syndrome
3.

Disorder of peroxisomal function

A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. [from NCI]

MedGen UID:
129185
Concept ID:
C0282528
Disease or Syndrome
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