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Abetalipoproteinemia Neuropathy
adult-onset ataxia and polyneuropathy
Ataxia with Fasciculations
Ataxia with Myoclonic Epilepsy and Presenile Dementia
Ataxia, Deafness, and Cardiomyopathy
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
Ataxia-Microcephaly-Cataract Syndrome
Atonic-Astatic Syndrome of Foerster
autosomal recessive spinocerebellar ataxia 19
autosomal recessive spinocerebellar ataxia 2
Bhaskar Jagannathan Syndrome
Carnitine Acetyltransferase Deficiency
Cataracts, Ataxia, Short Stature, and Mental Retardation
Cerebellar Atrophy with Seizures and Variable Developmental Delay
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
cerebellar atrophy, visual impairment, and psychomotor retardation
Cerebroretinal Microangiopathy with Calcifications and Cysts +
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
coenzyme Q10 deficiency disease +
Corneal Cerebellar Syndrome
Deafness Hyperuricemia Neurologic Ataxia
familial isolated deficiency of vitamin E
Galloway-Mowat syndrome +
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
hypomyelinating leukodystrophy 7
hypotonia, ataxia, and delayed development syndrome
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response
infantile cerebellar-retinal degeneration
Leukoencephalopathy with Ataxia
Mousa Al din Al Nassar Syndrome
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
myoclonic cerebellar dyssynergia +
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
neurodevelopmental disorder with eye movement abnormalities and ataxia
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment
olivopontocerebellar atrophy +
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
progressive myoclonus epilepsy 1B
Reardon Wilson Cavanagh Syndrome
Retinopathy-sensory neuropathy syndrome
Sensory Ataxia, Autosomal Dominant
Spastic Paraplegia, Ataxia, and Mental Retardation
Spinocerebellar Ataxias + A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)
spondyloepimetaphyseal dysplasia, Genevieve-type
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Tapetoretinal Degeneration with Ataxia
Treft Sanborn Carey Syndrome
Tremor of Intention, Ataxia, and Lipofuscinosis
Tryptophanuria with Dwarfism
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