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Pelizaeus-Merzbacher disease in female carriers

MONDO:0017224

Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).

0 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Nervous system disorder (231) Hereditary disease (176) Neurodegenerative disease (171) Central nervous system disorder (107) Human disease (14) Inherited neurodegenerative disorder (10) Pelizaeus-Merzbacher spectrum disorder (8) Hereditary neurological disease (6) Leukodystrophy (5)

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