A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia.

Abstract excerpt

Joubert Syndrome (JS) is a rare neurodevelopmental disorder characterized by cerebellar ataxia, oculomotor apraxia, and the characteristic "molar tooth sign" on brain MRI. Niemann - Pick Disease Type C (NPC) is an autosomal recessive lysosomal storage disorder associated with progressive neurological involvement, including ataxia and vertical supranuclear gaze palsy. Although these disorders have distinct genetic...

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