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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cystinuria
Comorbidity C0025362|mental retardation
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PubMedID- 20052367 There have been several reports of cystinuria associated with neurological manifestations; mental retardation, muscular dystrophy, hypotonia and dwarfism, paroxysmal dyskinesia, migraine, subacute combined degeneration of the spinal cord, and cerebellar atrophy (4-6).

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