Pelizaeus-Merzbacher spectrum disorder
MONDO:0010714An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.
Also known as: HLD1, PMD, Pelizaeus-Merzbacher brain sclerosis, Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease, X-linked recessive, Pelizaeus-Merzbacher spectrum disorder, Sudanophilic leukodystrophy, Paelizeus-Merzbacher type, diffuse familial brain sclerosis
22 clinical trials for this condition and its sub-types.
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