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agenesis of the corpus callosum with peripheral neuropathy
amyotrophic lateral sclerosis +
Behrens Baumann Dust Syndrome
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
Cerebellar Degeneration-Related Autoantigen 3
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
Cerebelloparenchymal Disorder VI
Cerebrocortical Degeneration of Infancy
childhood spinal muscular atrophy +
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
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers
Dykes Markes Harper Syndrome
Dystonia Musculorum Deformans +
Dystonia with Cerebellar Atrophy
eye degenerative disease +
Familial Amyloid Polyneuropathies +
familial encephalopathy with neuroserpin inclusion bodies
Feigenbaum Bergeron Richardson Syndrome
Gerstmann-Straussler-Scheinker syndrome
Gilles de la Tourette syndrome +
Glycosylphosphatidylinositol Biosynthesis Defect 15
Hereditary Central Nervous System Demyelinating Diseases +
Hereditary Optic Atrophies +
hereditary sensory neuropathy +
Huntington's disease-like 2
Huntington's Disease-Like Syndrome
Idiopathic Basal Ganglia Calcification 1
Idiopathic Basal Ganglia Calcification 6
Idiopathic Basal Ganglia Calcification 7
L-2-hydroxyglutaric aciduria
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
Lipodystrophy with Congenital Cataracts and Neurodegeneration
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability
mitochondrial DNA depletion syndrome 6
motor peripheral neuropathy +
multiple system atrophy +
myoclonic cerebellar dyssynergia +
myotonic dystrophy type 1 +
Nervous System Heredodegenerative Disorders +
Nervous System Paraneoplastic Syndromes +
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 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 Hypotonia and Cerebellar Atrophy, with or without Seizures
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
neurogenic scapuloperoneal syndrome Kaeser type
neuronal ceroid lipofuscinosis +
neuronal intranuclear inclusion disease
olivopontocerebellar atrophy +
Opticocochleodentate Degeneration
pantothenate kinase-associated neurodegeneration +
Paraneoplastic Cerebellar Degeneration
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
pontocerebellar hypoplasia +
Porencephaly Cerebellar Hypoplasia Malformations
PORETTI-BOLTSHAUSER SYNDROME
postpoliomyelitis syndrome
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
primary cerebellar degeneration + A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.
Progressive Psychomotor Deterioration
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
Spinal Cord Vascular Diseases +
Spinal Intradural Arachnoid Cysts
spinal muscular atrophy +
spinal muscular atrophy with predominant lower extremity +
Spongiform Encephalopathy with Neuropsychiatric Features
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Subacute Cerebellar Degeneration
Subacute Combined Degeneration
syndromic microphthalmia 10
tethered spinal cord syndrome
Unverricht-Lundborg syndrome +
X-Linked Intellectual Developmental Disorders +
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