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3-methylglutaconic aciduria type 5
Acute Febrile Encephalopathy
Athabaskan brainstem dysgenesis syndrome
Atrial Septal Defect with Atrioventricular Conduction Defects +
autosomal dominant cerebellar ataxia +
autosomal recessive cerebellar ataxia +
Benign Cerebellar Ataxia with Thermoanalgesia
Beta-Ureidopropionase Deficiency
Brachydactyly-Nystagmus-Cerebellar Ataxia
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia
Central Auditory Diseases +
central nervous system origin vertigo
Cerebellar Ataxia and Ectodermal Dysplasia
Cerebellar Ataxia and Hypergonadotropic Hypogonadism
Cerebellar Ataxia and Neurosensory Deafness
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS This disease is an autosomal recessive, primarily neurologic disorder with variable manifestations.
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
cerebellofaciodental syndrome
cerebrovascular disease +
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus
complex cortical dysplasia with other brain malformations +
Congenital Cerebral Granulomas
CONGENITAL DISORDER OF DEGLYCOSYLATION 2
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
disease of mental health +
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
familial hemiplegic migraine 1
Furukawa Takagi Nakao Syndrome
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES
intracranial hypertension +
ITM2B-related cerebral amyloid angiopathy 2
Keratosis Follicularis Dwarfism Cerebral Atrophy
Kuzniecky Andermann Syndrome
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy
lymphocytic choriomeningitis
Metabolic Brain Diseases +
Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization
Myoclonus, Cerebellar Ataxia, and Deafness
Myopathy, Epilepsy, and Progressive Cerebral Atrophy
Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities
Neuhauser Eichner Opitz Syndrome
NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
Non-Lissencephalic Cortical Dysplasia
Nonprogressive Heart Block
Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis
Progressive Encephalopathy with Amyotrophy and Optic Atrophy
Progressive Encephalopathy, with or without Lipodystrophy
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA
senile degeneration of brain
Sepsis-Associated Encephalopathy
short-rib thoracic dysplasia 9 with or without polydactyly
Thyrocerebral-Retinal Syndrome
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