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agenesis of the corpus callosum with peripheral neuropathy
amyotrophic lateral sclerosis +
Boylan Dew Greco Syndrome
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
central pontine myelinolysis
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 intrinsic factor deficiency
Demyelinating Autoimmune Diseases, CNS +
eye degenerative disease +
Feigenbaum Bergeron Richardson Syndrome
Groll Hirschowitz Syndrome
Hamano Tsukamoto Syndrome
Hereditary Central Nervous System Demyelinating Diseases +
Huntington's disease-like 2
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response
Idiopathic Basal Ganglia Calcification 1
Idiopathic Basal Ganglia Calcification 6
Idiopathic Basal Ganglia Calcification 7
Imerslund-Grasbeck Syndrome +
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
Marchiafava-Bignami Disease
methylmalonic aciduria and homocystinuria type cblC
multiple system atrophy +
myoclonic cerebellar dyssynergia +
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 CEREBELLAR ATAXIA AND COGNITIVE DECLINE
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 +
progressive multifocal leukoencephalopathy
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
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Spinal Cord Vascular Diseases +
Spinal Intradural Arachnoid Cysts
spinal muscular atrophy +
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Striatal Degeneration, Autosomal Dominant +
Subacute Cerebellar Degeneration
Subacute Combined Degeneration A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA.
tethered spinal cord syndrome
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)
transcobalamin II deficiency
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