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2-hydroxyglutaric aciduria +
Acute Febrile Encephalopathy
adult-onset ataxia and polyneuropathy
Asparagine Synthetase Deficiency
Athabaskan brainstem dysgenesis syndrome
Beta-Ureidopropionase Deficiency
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
branched-chain keto acid dehydrogenase kinase deficiency
carbamoyl phosphate synthetase I deficiency disease
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
Central Auditory Diseases +
central nervous system origin vertigo
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
cerebral creatine deficiency syndrome 1
cerebrovascular disease +
Childhood Myocerebrohepatopathy Spectrum
coenzyme Q10 deficiency disease +
combined oxidative phosphorylation deficiency +
complex cortical dysplasia with other brain malformations +
Congenital Cerebral Granulomas
CONGENITAL DISORDER OF DEGLYCOSYLATION 2
CST3-related cerebral amyloid angiopathy +
cytochrome-c oxidase deficiency disease +
deafness-dystonia-optic neuronopathy syndrome
Defect of Tricarboxylic Acid Cycle
Deoxyguanosine Kinase Deficiency
developmental and epileptic encephalopathy 39
disease of mental health +
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 10
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
Encephalopathy, Spastic Tetraparesis, and Hypogonadism
ethylmalonic encephalopathy
Hereditary Central Nervous System Demyelinating Diseases +
HMG-CoA synthase 2 deficiency
Hypermetabolism due to Defect in Mitochondria
HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2
hypomyelinating leukodystrophy 4
hypotonia-cystinuria syndrome
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES
intracranial hypertension +
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
Kuzniecky Andermann Syndrome
Late-Onset Carnitine Palmitoyltransferase II Deficiency
Leber hereditary optic neuropathy +
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
lymphocytic choriomeningitis
Lysosomal Storage Diseases, Nervous System +
maple syrup urine disease +
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
Metabolic Brain Diseases +
Microphthalmia and Mental Deficiency
Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization
Mitochondrial Cardiomyopathy
mitochondrial complex I deficiency +
mitochondrial complex II deficiency +
mitochondrial complex III deficiency +
mitochondrial complex V (ATP synthase) deficiency +
Mitochondrial Cytopathy +
mitochondrial DNA depletion syndrome +
Mitochondrial Phosphate Carrier Deficiency
mitochondrial pyruvate carrier deficiency
multiple acyl-CoA dehydrogenase deficiency +
multiple mitochondrial dysfunctions syndrome +
Myopathy with Giant Abnormal Mitochondria
Myopathy, Cataract, Hypogonadism Syndrome
Myopathy, Epilepsy, and Progressive Cerebral Atrophy
Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
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
Noninsulin-Dependent Diabetes Mellitus with Deafness
oculocerebrorenal syndrome +
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
Parkinson's Disease, Mitochondrial
Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis
Progressive Encephalopathy with Amyotrophy and Optic Atrophy
Progressive Encephalopathy, with or without Lipodystrophy
Progressive External Ophthalmoplegia with Hypogonadism
Proximal Myopathy with Focal Depletion of Mitochondria
pyruvate carboxylase deficiency disease +
pyruvate decarboxylase deficiency +
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression
senile degeneration of brain
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sepsis-Associated Encephalopathy
Silengo Lerone Pelizza Syndrome
Spinocerebellar Ataxia with Epilepsy
Succinate-Coa Ligase Deficiency +
Thyrocerebral-Retinal Syndrome
very long chain acyl-CoA dehydrogenase deficiency
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