Pelizaeus-Merzbacher spectrum disorder
An 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.
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0019046
leukodystrophy
is_a
HLD1
exact
PMD
exact
Pelizaeus Merzbacher disease
related
Pelizaeus-Merzbacher brain sclerosis
exact
Pelizaeus-Merzbacher disease
exact
Pelizaeus-Merzbacher disease, X-linked recessive
exact
Pelizaeus-Merzbacher spectrum disorder
exact
Sudanophilic leukodystrophy, Paelizeus-Merzbacher type
exact
diffuse familial brain sclerosis
exact
sudanophilic leukodystrophy, Paelizeus-Merzbacher type
exact