|
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, Dystonia, and Gaze Palsy
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
Childhood-Onset Neurodegeneration with Brain Atrophy
Childhood-Onset Neurodegeneration with Cerebellar Atrophy
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities
Chronic Traumatic Encephalopathy
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 with Ataxia and Late-Onset Optic Atrophy
neurodegeneration with brain iron accumulation +
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
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
|
|