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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 +
Basilicata-Akhtar syndrome
Beta-Amino Acids, Renal Transport of
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
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
deafness-intellectual disability, Martin-Probst type syndrome
Developmental Delay, Epilepsy, and Neonatal Diabetes
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
Drug Resistant Epilepsy +
electroclinical syndrome +
Epilepsy, Occipital Calcifications
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
female-restricted syndromic X-linked intellectual disability 99
Focal Cortical Dysplasia of Taylor +
Glycosylphosphatidylinositol Deficiency +
Gurrieri Sammito Bellussi 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
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE
Kohlschutter-Tonz syndrome
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mental Retardation, X-Linked, Syndromic, Ube2a-Related
Microcephaly, Epilepsy, and Diabetes Syndrome +
microcephaly, growth deficiency, seizures, and brain malformations
Miles-Carpenter syndrome +
Mullegama-Klein-Martinez 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
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation
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
Sandhaus Ben-Ami Syndrome
Schimke X-Linked Mental Retardation Syndrome
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
Spinocerebellar Ataxia with Epilepsy
Stocco Dos Santos type X-linked intellectual disability
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
syndromic X-linked intellectual developmental disorder 37
syndromic X-linked intellectual developmental disorder Bain type
syndromic X-linked intellectual disability 12
syndromic X-linked intellectual disability 14
syndromic X-linked intellectual disability 17
syndromic X-linked intellectual disability 34
syndromic X-linked intellectual disability 5
syndromic X-linked intellectual disability 7
syndromic X-linked intellectual disability 94
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disability Cabezas type
syndromic X-linked intellectual disability Chudley-Schwartz type
syndromic X-linked intellectual disability Claes-Jensen type
syndromic X-linked intellectual disability Hedera type A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11. (DO)
syndromic X-linked intellectual disability Lubs type
syndromic X-linked intellectual disability Najm type
syndromic X-linked intellectual disability Nascimento type
syndromic X-linked intellectual disability Pilorge type
syndromic X-linked intellectual disability Raymond type
syndromic X-linked intellectual disability Shashi type
syndromic X-linked intellectual disability Shrimpton type
syndromic X-linked intellectual disability Siderius type
syndromic X-linked intellectual disability Snyder type
syndromic X-linked intellectual disability Turner type
syndromic X-linked intellectual disability type 10
syndromic X-linked intellectual disorder Lujan-Fryns-type
Syndromic X-Linked Mental Retardation 33
syndromic X-linked mental retardation 35
syndromic X-linked mental retardation Hough type
Tonne-Kalscheuer syndrome
Van Esch-O'Driscoll syndrome
X-linked Aarskog syndrome
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 intellectual developmental disorder 108
X-linked intellectual developmental disorder 109
X-Linked Intellectual Developmental Disorder 110
X-Linked Intellectual Developmental Disorder 112
X-Linked Intellectual Developmental Disorder 113
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked intellectual disability-short stature-overweight syndrome
X-linked mental retardation Gustavson type
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
X-linked mental retardation-hypotonic facies syndrome-1
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