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3-methylglutaconic aciduria type 3
Abetalipoproteinemia Neuropathy
adult-onset ataxia and polyneuropathy
agenesis of the corpus callosum with peripheral neuropathy
Al Gazali Khidr Prem Chandran Syndrome
Al Gazali Sabrinathan Nair Syndrome
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, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
Ataxia-Microcephaly-Cataract Syndrome
Atonic-Astatic Syndrome of Foerster
Bhaskar Jagannathan Syndrome
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
Carnitine Acetyltransferase Deficiency
Cataracts, Ataxia, Short Stature, and Mental Retardation
Cerebroretinal Microangiopathy with Calcifications and Cysts +
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline An autosomal recessive progressive disorder with onset of symptoms in the first decade.
childhood-onset neurodegeneration with brain atrophy
Childhood-Onset Neurodegeneration with Cerebellar Atrophy
coenzyme Q10 deficiency disease +
Deafness Hyperuricemia Neurologic Ataxia
deafness-dystonia-optic neuronopathy syndrome
eye degenerative disease +
familial isolated deficiency of vitamin E
Feigenbaum Bergeron Richardson Syndrome
fragile X-associated tremor/ataxia syndrome
glaucomatous atrophy of optic disc
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine
Hereditary Optic Atrophies +
Huntington's disease-like 2
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
Idiopathic Basal Ganglia Calcification 1
Idiopathic Basal Ganglia Calcification 6
Idiopathic Basal Ganglia Calcification 7
infantile cerebellar-retinal degeneration
Leukoencephalopathy with Ataxia
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
mitochondrial DNA depletion syndrome 16B
Multiple mitochondrial dysfunctions syndrome 8
multiple system atrophy +
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
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
NEURODEGENERATION, INFANTILE-ONSET, WITH OPTIC ATROPHY AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
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 INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
neuronal intranuclear inclusion disease
olivopontocerebellar atrophy +
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
pontocerebellar hypoplasia +
postpoliomyelitis syndrome
primary cerebellar degeneration +
Primary Orthostatic Tremor
Progressive Encephalopathy with Amyotrophy and Optic Atrophy
progressive myoclonus epilepsy 1B
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant
Reardon Wilson Cavanagh Syndrome
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression
Retinopathy-sensory neuropathy syndrome
secondary Parkinson disease +
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
Sensory Ataxia, Autosomal Dominant
Silengo Lerone Pelizza Syndrome
Spastic Paraplegia, Ataxia, and Mental Retardation
Spinocerebellar Ataxias +
spondyloepimetaphyseal dysplasia, Genevieve-type
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Subacute Combined Degeneration
Tapetoretinal Degeneration with Ataxia
Treft Sanborn Carey Syndrome
Tremor of Intention, Ataxia, and Lipofuscinosis
Tryptophanuria with Dwarfism
X-linked mental retardation Gustavson type
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