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AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Alcohol Withdrawal Seizures
Allan-Herndon-Dudley syndrome
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
Arthrogryposis, Impaired Intellectual Development, and Seizures
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
Atonic-Astatic Syndrome of Foerster
Autosomal Dominant Intellectual Developmental Disorder 60
autosomal recessive intellectual developmental disorder 73
autosomal recessive spinocerebellar ataxia 12
Baraitser-Winter syndrome +
Beta-Amino Acids, Renal Transport of
Borjeson-Forssman-Lehmann syndrome
Boudhina Yedes Khiari syndrome
branched-chain keto acid dehydrogenase kinase deficiency
BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME
Carnitine Acetyltransferase Deficiency
central precocious puberty +
Cerebellar Atrophy with Seizures and Variable Developmental Delay
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
combined oxidative phosphorylation deficiency 3
Congenital Adrenal Hypoplasia with Precocious Puberty
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Der Kaloustian Mcintosh Silver Syndrome
developmental delay and seizures with or without movement abnormalities
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities
DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY
Developmental Delay, Epilepsy, and Neonatal Diabetes
developmental delay, hypotonia, and impaired language
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Drug Resistant Epilepsy +
Dyskinesias, Seizures, and Intellectual Developmental Disorder
electroclinical syndrome +
Epilepsy, Occipital Calcifications
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
familial male-limited precocious puberty
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
Focal Cortical Dysplasia of Taylor +
glycogen storage disease IX +
Glycosylphosphatidylinositol Biosynthesis Defect 25
Glycosylphosphatidylinositol Deficiency +
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
Grubben de Cock Borghgraef Syndrome
Gurrieri Sammito Bellussi Syndrome
Hyperglycinemia, Lactic Acidosis, and Seizures
Hyperphosphatemia, Polyuria, and Seizures
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY +
hypotonia, ataxia, and delayed development syndrome
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response
Hypotonia, Seizures, and Precocious Puberty
hypotonia-cystinuria syndrome
Infantile Hypotonia with Psychomotor Retardation +
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age
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 Dysmorphic Facies, Seizures, and Distal Limb Anomalies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
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 disability and myopathy syndrome
Kohlschutter-Tonz syndrome
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Microcephaly, Epilepsy, and Diabetes Syndrome +
microcephaly, growth deficiency, seizures, and brain malformations
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
multiple congenital anomalies-hypotonia-seizures syndrome +
Myopathy, Epilepsy, and Progressive Cerebral Atrophy
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
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 ATAXIA, HYPOTONIA, AND MICROCEPHALY
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
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 AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES
neurodevelopmental disorder with hypotonia and speech delay
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
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, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
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
NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES
NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
osteosclerotic metaphyseal dysplasia
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 Encephalopathy with Amyotrophy and Optic Atrophy
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
scalp-ear-nipple syndrome
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
Snijders Blok-Fisher Syndrome
Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty
Spastic Paraplegia with Precocious Puberty
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE
Spinocerebellar Ataxia with Epilepsy
spondyloepimetaphyseal dysplasia, Pakistani type
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
syndromic X-linked intellectual disability Hedera type
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT
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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