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- Ba54b1e276596810a466e51c0a2e8a08a hasDbXref "Orphanet:352641" @default.
- Ba54b1e276596810a466e51c0a2e8a08a type Axiom @default.
- Ba54b1e276596810a466e51c0a2e8a08a annotatedProperty IAO_0000115 @default.
- Ba54b1e276596810a466e51c0a2e8a08a annotatedSource MONDO_0018129 @default.
- Ba54b1e276596810a466e51c0a2e8a08a annotatedTarget "Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated." @default.