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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease infantile neuroaxonal dystrophy
Comorbidity C0013421|dystonia
Sentences 2
PubMedID- 25614780 The pla2g6 gene discovery and advances in molecular genetic technology led to the recognition of an adult form of plan presenting with dystonia-parkinsonism and spasticity, along with cognitive and psychiatric features [22].
PubMedID- 24847269 The clinical phenotype is quite similar to that of plan with spasticity, dystonia, ataxia and oculomotor disturbances.

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