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Abetalipoproteinemia Neuropathy
Accessory Deep Peroneal Nerve
adult-onset ataxia and polyneuropathy
agenesis of the corpus callosum with peripheral neuropathy
Apical Hypertrophic Cardiomyopathy and Neuropathy
Ataxia with Fasciculations
Ataxia with Myoclonic Epilepsy and Presenile Dementia
Ataxia, Deafness, and Cardiomyopathy
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
Ataxia-Microcephaly-Cataract Syndrome
Ataxia-Oculomotor Apraxia 4
Atonic-Astatic Syndrome of Foerster
autoimmune disease of peripheral nervous system +
autonomic nervous system disease +
Benign Childhood Paroxysmal Tonic Upgaze with Ataxia
Bhaskar Jagannathan Syndrome
Carnitine Acetyltransferase Deficiency
Cataracts, Ataxia, Short Stature, and Mental Retardation
Cerebrocortical Degeneration of Infancy
Cerebroretinal Microangiopathy with Calcifications and Cysts +
childhood spinal muscular atrophy +
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
coenzyme Q10 deficiency disease +
complex regional pain syndrome +
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers
Congenital Myopathy with Neuropathy and Deafness
Congenital Pain Insensitivity +
Deafness Hyperuricemia Neurologic Ataxia
Dystonia Musculorum Deformans +
Erythrokeratodermia with Ataxia
Familial Amyloid Polyneuropathies +
familial encephalopathy with neuroserpin inclusion bodies
familial isolated deficiency of vitamin E
Gamstorp-Wohlfart syndrome
Gerstmann-Straussler-Scheinker syndrome
Gilles de la Tourette syndrome +
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine
Hand-Arm Vibration Syndrome
Hereditary Central Nervous System Demyelinating Diseases +
Hereditary Optic Atrophies +
hereditary sensory neuropathy +
Huntington's disease-like 2
Huntington's Disease-Like Syndrome
Hypertrophic Neuropathy and Cataract
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response
Inherited Peripheral Neuropathy +
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy
Leukoencephalopathy with Ataxia
Lipodystrophy with Congenital Cataracts and Neurodegeneration
lumbosacral plexus lesion
Mental Retardation, X-Linked +
mitochondrial DNA depletion syndrome 6
Mitochondrial Myopathy, and Ataxia
motor peripheral neuropathy +
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
myotonic dystrophy type 1 +
nerve compression syndrome +
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
neurogenic scapuloperoneal syndrome Kaeser type
neuronal ceroid lipofuscinosis +
Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME
Opticocochleodentate Degeneration
pantothenate kinase-associated neurodegeneration +
Peripheral Nerve Injuries
peripheral nervous system neoplasm +
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss
Posterior Column Ataxia with Retinitis Pigmentosa
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
primary cerebellar degeneration +
progressive myoclonus epilepsy 1B
Progressive Psychomotor Deterioration
Reardon Wilson Cavanagh Syndrome
Sensory Ataxia, Autosomal Dominant
Spastic Ataxia with Congenital Miosis
Spastic Paraplegia, Ataxia, and Mental Retardation
spinal muscular atrophy with lower extremity predominance +
Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy
Spinocerebellar Ataxias +
spondyloepimetaphyseal dysplasia, Genevieve-type
Spongiform Encephalopathy with Neuropsychiatric Features
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
syndromic microphthalmia 10
Tapetoretinal Degeneration with Ataxia
Treft Sanborn Carey Syndrome
Tremor of Intention, Ataxia, and Lipofuscinosis
Tryptophanuria with Dwarfism
Unverricht-Lundborg syndrome +
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