|
3-methylglutaconic aciduria type 3
agenesis of the corpus callosum with peripheral neuropathy
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
Ataxia with Myoclonic Epilepsy and Presenile Dementia
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
Auditory Perceptual Disorders +
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
Brain-Lung-Thyroid Syndrome
Cerebral Amyloidosis with Spongiform Encephalopathy +
Cerebrocortical Degeneration of Infancy
childhood spinal muscular atrophy +
Childhood-Onset Chorea with Psychomotor Retardation
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
childhood-onset neurodegeneration with brain atrophy
Childhood-Onset Neurodegeneration with Cerebellar Atrophy
Choreoathetosis, Familial Inverted
Cognitive Impairment with or Without Cerebellar Ataxia
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers
Consciousness Disorders +
Creutzfeldt-Jakob disease +
deafness-dystonia-optic neuronopathy syndrome
Dementia/Parkinsonism with Non-Alzheimer Amyloid Plaques
Diffuse Neurofibrillary Tangles with Calcification
Dystonia Musculorum Deformans +
eye degenerative disease +
Familial Amyloid Polyneuropathies +
familial encephalopathy with neuroserpin inclusion bodies
Familial Partial Lipodystrophy Type 7
Feigenbaum Bergeron Richardson Syndrome
Frontotemporal Lobar Degeneration +
Gerstmann-Straussler-Scheinker syndrome
Gilles de la Tourette syndrome +
Hereditary Central Nervous System Demyelinating Diseases +
Hereditary Optic Atrophies +
hereditary sensory neuropathy +
hereditary spastic paraplegia 75
Huntington's disease-like 2 A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24. (DO)
Huntington's Disease-Like Syndrome
Idiopathic Basal Ganglia Calcification 1
Idiopathic Basal Ganglia Calcification 6
Idiopathic Basal Ganglia Calcification 7
ITM2B-related cerebral amyloid angiopathy 2
juvenile amyotrophic lateral sclerosis with dementia
Kohlschutter-Tonz syndrome
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
mitochondrial DNA depletion syndrome 16B
mitochondrial DNA depletion syndrome 6
Motor Neuron Disease with Dementia and Ophthalmoplegia
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 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 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
paroxysmal nonkinesigenic dyskinesia 1
paroxysmal nonkinesigenic dyskinesia 2
paroxysmal nonkinesigenic dyskinesia 3
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
pontocerebellar hypoplasia +
postpoliomyelitis syndrome
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
Presenile Dementia, Kraepelin Type
primary cerebellar degeneration +
Progressive Psychomotor Deterioration
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression
Remitting Chorea with Nystagmus and Cataracts
secondary Parkinson disease +
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
Spastic Paraplegia, Optic Atrophy, and Dementia
spinal muscular atrophy with lower extremity predominant +
Spongiform Encephalopathy with Neuropsychiatric Features
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Subacute Combined Degeneration
subjective cognitive decline
syndromic microphthalmia 10
Unverricht-Lundborg syndrome +
X-Linked Intellectual Developmental Disorders +
|
|