About: Pelizaeus–Merzbacher disease
An Entity of Type: disease,
from Named Graph: http://dbpedia.org,
within Data Space: dbpedia.org
Hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has material basis in mutation in the PLP1 gene on chromosome Xq22
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