has material basis in germline mutation in KIF1C spastic ataxia 2 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/spastic_ataxia_2 https://www.malacards.org/card/spastic_ataxia_2_autosomal_recessive GARD:0017644 MONDO:0012651 spastic ataxia type 2 autosomal recessive spastic ataxia type 2 SPG58 spastic ataxia caused by mutation in KIF1C spastic ataxia 2 MEDGEN:370750 UMLS:C1969796 spastic ataxia 2, autosomal recessive MESH:C566969 DOID:0050941 Orphanet:397946 KIF1C spastic ataxia OMIM:611302 Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs. SPAX2 complex hereditary spastic paraplegia spastic ataxia