agenesis of the corpus callosum with peripheral neuropathy
autonomic peripheral neuropathy
autosomal dominant cerebellar ataxia +
autosomal recessive cerebellar ataxia +
Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development
axonal neuropathy +
Benign Cerebellar Ataxia with Thermoanalgesia
brachial plexus neuropathy +
Brachydactyly-Nystagmus-Cerebellar Ataxia
Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia
CAPOS Syndrome
Cerebellar Ataxia and Ectodermal Dysplasia
Cerebellar Ataxia and Hypergonadotropic Hypogonadism
Cerebellar Ataxia and Neurosensory Deafness
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
An adult-onset slowly progressive neurologic disorder characterized by imbalance due to cerebellar gait and limb ataxia, impaired vestibular function bilaterally, and non-length-dependent sensory neuropathy. CANVAS is caused by a homozygous repeat expansion (AAGGG(n)) in the RFC1 gene (102579) on chromosome 4p14. The reference allele is a simple tandem pentanucleotide AAAAG repeat of 11 (AAAAG(11)), whereas the expansion size ranges from about 400 to 2,000 repeats, with the majority of cases having about 1,000 repeats. (OMIM)
cerebellofaciodental syndrome
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
cranial nerve disease +
diabetic neuropathy +
episodic ataxia type 5
episodic ataxia type 6
erythromelalgia
familial episodic pain syndrome +
familial hemiplegic migraine 1
Familial Visceral Neuropathy +
Furukawa Takagi Nakao Syndrome
Gillespie syndrome
Gordon Holmes syndrome
Harding Ataxia
hereditary sensory neuropathy +
Herrmann Syndrome
hypomyelinating leukodystrophy 8
inflammatory and toxic neuropathy +
ischemic neuropathy
ITM2B-related cerebral amyloid angiopathy 2
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy
mononeuropathy +
motor peripheral neuropathy +
Myelocerebellar Disorder
Myoclonus, Cerebellar Ataxia, and Deafness
Neuhauser Eichner Opitz Syndrome
neuritis +
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE
neuromuscular disease +
Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant
Painful Neuropathy
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA
sensory peripheral neuropathy
short-rib thoracic dysplasia 9 with or without polydactyly