eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hereditary motor and sensory neuropathy v |
| Comorbidity | C0025362|mental retardation |
| Sentences | 2 |
| PubMedID- 21077357 | [hereditary spastic paraplegia associated with congenital cataracts, mental retardation and peripheral neuropathy]. |
| 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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