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Results: 3

1.

Demyelination

MedGen UID:
3720
Concept ID:
C0011304
Pathologic Function
2.

Peripheral demyelination

A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. [from HPO]

MedGen UID:
506437
Concept ID:
CN116827
Finding
3.

Pelizaeus-Merzbacher disease

PLP1-related disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Female carriers may manifest mild to moderate signs of the disease. [from GeneReviews]

MedGen UID:
61440
Concept ID:
C0205711
Disease or Syndrome

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