|
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
agenesis of the corpus callosum with peripheral neuropathy
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
childhood-onset neurodegeneration with brain atrophy
Childhood-Onset Neurodegeneration with Cerebellar Atrophy
Encephalocraniocutaneous Lipomatosis
eye accommodation disease +
eye degenerative disease +
Feigenbaum Bergeron Richardson Syndrome
Hereditary Eye Diseases +
Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance
Hernandez Fragoso Syndrome
Huntington's disease-like 2
Idiopathic Basal Ganglia Calcification 1
Idiopathic Basal Ganglia Calcification 6
Idiopathic Basal Ganglia Calcification 7
lacrimal apparatus disease +
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
Mollica-Pavone-Antener Syndrome
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
NEURODEGENERATION, INFANTILE-ONSET, WITH OPTIC ATROPHY AND BRAIN ABNORMALITIES
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
Neuromuscular Oculoauditory Syndrome
neuronal intranuclear inclusion disease
ocular motility disease +
Ocular Neovascularization +
olivopontocerebellar atrophy +
pontocerebellar hypoplasia +
postpoliomyelitis syndrome
primary cerebellar degeneration +
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
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Subacute Combined Degeneration
|
|