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pelizaeus-merzbacher disease

Medical Definition

An x-linked inherited disorder caused by mutations in the plp1 gene on chromosome x. the signs and symptoms are the result of defective myelination of the central nervous system and include nystagmus, hypotonia, tremor, ataxia, spastic quadriparesis, and diffuse leukoencephalopathy.
Related Codes (1)
Code
Description
Billable
Details
E75.27Pelizaeus-Merzbacher disease

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