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Adrenocortical Hypofunction, Chronic Primary Congenital
adrenocorticotropic hormone deficiency
advanced sleep phase syndrome 3
age related macular degeneration 8
agenesis of the corpus callosum with peripheral neuropathy
Alpha-2-Deficient Collagen Disease
atrial heart septal defect 3
atrial heart septal defect 4
autoimmune lymphoproliferative syndrome +
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
cataract 26 multiple types
Cenani-Lenz syndactyly syndrome
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
childhood-onset neurodegeneration with brain atrophy
Childhood-Onset Neurodegeneration with Cerebellar Atrophy
complex cortical dysplasia with other brain malformations 1
complex cortical dysplasia with other brain malformations 2
complex cortical dysplasia with other brain malformations 3
complex cortical dysplasia with other brain malformations 4
complex cortical dysplasia with other brain malformations 5
complex cortical dysplasia with other brain malformations 6
Congenital Hepatic Fibrosis
Congenital Pain Insensitivity +
desquamative interstitial pneumonia
eye degenerative disease +
Familial Dysalbuminemic Hyperthyroxinemia
Familial Hemophagocytic Lymphohistiocytoses +
familial hypertrophic cardiomyopathy +
Familial Lipochrome Histiocytosis
Familial Mixed Cryoglobulinemia
Familial Temporal Epilepsy +
Feigenbaum Bergeron Richardson Syndrome
frontotemporal dementia and/or amyotrophic lateral sclerosis 3
frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Hereditary Bilateral Parotidomegaly
Hereditary Eye Diseases +
Hereditary Neoplastic Syndromes +
Huntington's disease-like 2
Idiopathic Basal Ganglia Calcification 1
Idiopathic Basal Ganglia Calcification 6
Idiopathic Basal Ganglia Calcification 7
inherited metabolic disorder +
Isolated Prolactin Deficiency
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
multiple system atrophy +
myoclonic cerebellar dyssynergia +
Nervous System Heredodegenerative Disorders + Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems.
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
neuronal intranuclear inclusion disease
Nonimmune Chronic Idiopathic Neutropenia, Adult
olivopontocerebellar atrophy +
pontocerebellar hypoplasia +
postpoliomyelitis syndrome
primary cerebellar degeneration +
primary hypertrophic osteoarthropathy +
progressive familial intrahepatic cholestasis +
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression
Sacral Agenesis with Vertebral Anomalies
secondary Parkinson disease +
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Subacute Combined Degeneration
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