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3-methylglutaconic aciduria type 5
agenesis of the corpus callosum with peripheral neuropathy
autosomal dominant cerebellar ataxia +
autosomal recessive cerebellar ataxia +
Benign Cerebellar Ataxia with Thermoanalgesia
Brachydactyly-Nystagmus-Cerebellar Ataxia
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia
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
cerebellofaciodental syndrome
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
childhood-onset neurodegeneration with brain atrophy
Childhood-Onset Neurodegeneration with Cerebellar Atrophy
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
eye degenerative disease +
familial hemiplegic migraine 1
Feigenbaum Bergeron Richardson Syndrome
Furukawa Takagi Nakao Syndrome
Huntington's disease-like 2
hypomyelinating leukodystrophy 8
Idiopathic Basal Ganglia Calcification 1
Idiopathic Basal Ganglia Calcification 6
Idiopathic Basal Ganglia Calcification 7
ITM2B-related cerebral amyloid angiopathy 2
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
multiple system atrophy +
myoclonic cerebellar dyssynergia +
Myoclonus, Cerebellar Ataxia, and Deafness
Nervous System Heredodegenerative Disorders +
Nervous System Paraneoplastic Syndromes +
Neuhauser Eichner Opitz Syndrome
NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
neurodegeneration with brain iron accumulation +
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE This disease is characterized by the onset of progressive gait and truncal ataxia in early childhood. Affected individuals have muscle weakness and atrophy and sensorimotor axonal neuropathy.
NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA
NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
neuronal intranuclear inclusion disease
olivopontocerebellar atrophy +
pontocerebellar hypoplasia +
postpoliomyelitis syndrome
primary cerebellar degeneration +
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA
secondary Parkinson disease +
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
short-rib thoracic dysplasia 9 with or without polydactyly
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Subacute Combined Degeneration
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