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agenesis of the corpus callosum with peripheral neuropathy
autosomal recessive spinocerebellar ataxia 19
autosomal recessive spinocerebellar ataxia 2
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
Cerebellar Atrophy with Seizures and Variable Developmental Delay
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation
Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
Childhood-Onset Neurodegeneration with Brain Atrophy
Childhood-Onset Neurodegeneration with Cerebellar Atrophy
Chronic Traumatic Encephalopathy
Corneal Cerebellar Syndrome
eye degenerative disease +
eyelid degenerative disease +
Feigenbaum Bergeron Richardson Syndrome
Galloway-Mowat syndrome +
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Huntington's disease-like 2
Idiopathic Basal Ganglia Calcification 1
Idiopathic Basal Ganglia Calcification 6
Idiopathic Basal Ganglia Calcification 7
infantile cerebellar-retinal degeneration
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
Mousa Al din Al Nassar Syndrome
multiple system atrophy +
myoclonic cerebellar dyssynergia + A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)
Nervous System Heredodegenerative Disorders +
Nervous System Paraneoplastic Syndromes +
neurodegeneration with brain iron accumulation +
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA
NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
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
secondary Parkinson disease +
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
Spinocerebellar Ataxias +
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Subacute Combined Degeneration
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