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AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Alcohol Withdrawal Seizures
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan
angioid streaks of choroid
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
Bietti crystalline corneoretinal dystrophy
Borjeson-Forssman-Lehmann syndrome
Boudhina Yedes Khiari syndrome
branched-chain keto acid dehydrogenase kinase deficiency
Cerebellar Atrophy with Seizures and Variable Developmental Delay
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies
Developmental Delay, Epilepsy, and Neonatal Diabetes
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
Drug Resistant Epilepsy +
electroclinical syndrome +
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Epilepsy, Occipital Calcifications
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
Focal Cortical Dysplasia of Taylor +
Glycosylphosphatidylinositol Deficiency +
Gurrieri Sammito Bellussi Syndrome
hereditary spastic paraplegia 15
High Myopia with Cataract and Vitreoretinal Degeneration
Hyaloideoretinal Degeneration of Wagner
infantile cerebellar-retinal degeneration
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 retinal degeneration
Lattice Degeneration of Retina Leading to Retinal Detachment
MacKay Shek Carr Syndrome
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Microcephaly, Epilepsy, and Diabetes Syndrome +
microcephaly, growth deficiency, seizures, and brain malformations
Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies
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 HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES
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
Noble Bass Sherman Syndrome
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
peripheral retinal degeneration +
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation
pigmented paravenous chorioretinal atrophy
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
polyhydramnios, megalencephaly, and symptomatic epilepsy
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
pyridoxamine 5'-phosphate oxidase deficiency
pyridoxine-dependent epilepsy +
Retinal Degeneration and Epilepsy
Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type
Sandhaus Ben-Ami Syndrome
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
snowflake vitreoretinal degeneration
Spinocerebellar Ataxia with Epilepsy
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Sveinsson chorioretinal atrophy
syndromic X-linked intellectual disability Hedera type
X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features
X-linked epilepsy with variable learning disabilities and behavior disorders
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