Neurologic disorders
Cerebellar ataxia, RAB24-related
Cerebellar cortical degeneration
CNS atrophy and cerebellar ataxia
Dandy-Walker-like malformation (cerebellar hypoplasia)
Degenerative myelopathy
Juvenile-onset neuroaxonal dystrophy, TECPR2-related
Laryngeal paralysis, RAPGEF6-related
Leigh-like subacute necrotizing encephalopathy (SNE)
Mitochondrial neurodegenerative disease with epileptic encephalopathy
Multiple system degeneration
Neuroaxonal dystrophy, PLA2G6-related
Neuroaxonal dystrophy, VPS11-related
Neurological defects, MYO5A-related
Paroxysmal dyskinesia, PIGN-related
Paroxysmal dyskinesia, SOD1-related
Pelizaeus-Merzbacker disease (shaking pup disease)
Polyneuropathy, RAB3GAP1-related
Polyneuropathy, SBF2-related
Sensory ataxic neuropathy
Spinal dysraphism
Spinocerebellar ataxia, SCN8A-related
Spinocerebellar ataxia, SLC12A6-related
Spinocerebellar ataxia, SPTBN2-related