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adult-onset ataxia and polyneuropathy
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Alcohol Withdrawal Seizures
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
Autosomal Dominant Intellectual Developmental Disorder 60
autosomal recessive spinocerebellar ataxia 12
Baraitser-Winter syndrome +
Beta-Amino Acids, Renal Transport of
Borjeson-Forssman-Lehmann syndrome
Boucher-Neuhauser syndrome
Boudhina Yedes Khiari syndrome
branched-chain keto acid dehydrogenase kinase deficiency
carbamoyl phosphate synthetase I deficiency disease
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
Cerebellar Atrophy with Seizures and Variable Developmental Delay
Childhood Myocerebrohepatopathy Spectrum
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
coenzyme Q10 deficiency disease +
combined oxidative phosphorylation deficiency +
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies
cytochrome-c oxidase deficiency disease +
deafness-dystonia-optic neuronopathy syndrome
Deoxyguanosine Kinase Deficiency
developmental and epileptic encephalopathy 39
Developmental Delay, Epilepsy, and Neonatal Diabetes
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
Drug Resistant Epilepsy +
electroclinical syndrome +
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
Epilepsy, Occipital Calcifications
ethylmalonic encephalopathy
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
Focal Cortical Dysplasia of Taylor +
Glycosylphosphatidylinositol Deficiency +
Gurrieri Sammito Bellussi Syndrome
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
intellectual developmental disorder with autistic features and language delay, with or without seizures
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
Intellectual Developmental Disorder with Seizures and Language Delay
Kohlschutter-Tonz syndrome
Late-Onset Carnitine Palmitoyltransferase II Deficiency
Leber hereditary optic neuropathy +
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Microcephaly, Epilepsy, and Diabetes Syndrome +
microcephaly, growth deficiency, seizures, and brain malformations
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 DNA depletion syndrome 16B
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
NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY
NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
neurodevelopmental disorder with hypotonia and speech delay
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
neurodevelopmental disorder with language delay and seizures
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS
NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
Neurodevelopmental Disorder with Seizures and Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES
Noninsulin-Dependent Diabetes Mellitus with Deafness
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Parkinson's Disease, Mitochondrial
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
polyhydramnios, megalencephaly, and symptomatic epilepsy
Progressive External Ophthalmoplegia with Hypogonadism
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
Proximal Myopathy with Focal Depletion of Mitochondria
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
pyridoxamine 5'-phosphate oxidase deficiency
pyridoxine-dependent epilepsy +
pyruvate carboxylase deficiency disease +
pyruvate decarboxylase deficiency +
Retinal Degeneration and Epilepsy
Sandhaus Ben-Ami Syndrome
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Spinocerebellar Ataxia and Plaque-Like Deposits
Spinocerebellar Ataxia with Dysmorphism
Spinocerebellar Ataxia with Epilepsy
Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Succinate-Coa Ligase Deficiency +
syndromic X-linked intellectual disability Hedera type
very long chain acyl-CoA dehydrogenase deficiency
X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features
X-linked epilepsy with variable learning disabilities and behavior disorders
X-linked sideroblastic anemia with ataxia
X-linked spinocerebellar ataxia 1
X-linked spinocerebellar ataxia 2
X-linked spinocerebellar ataxia 3
X-linked spinocerebellar ataxia 4
X-linked spinocerebellar ataxia 5
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