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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease paraplegia
Comorbidity C0025362|mental retardation
Sentences 2
PubMedID- 21077357 He was diagnosed as having complex spastic paraplegia with cataracts, mental retardation and peripheral neuropathy that might comprise a genetically distinct entity that is unique to japan, because all prior reports of this combination have been generated only from japan.
PubMedID- 26179919 We describe three siblings of a consanguineous family manifesting the typical infantile-onset pelizaeus-merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy and peripheral neuropathy in adulthood.

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