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3-methylglutaconic aciduria type 3
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Al Gazali Khidr Prem Chandran Syndrome
Al Gazali Sabrinathan Nair Syndrome
Alkuraya-Kucinskas syndrome
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
Attention Deficit and Disruptive Behavior Disorders +
autosomal dominant mental retardation 20
Autosomal Dominant Mental Retardation 60
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
Cardiofacioneurodevelopmental Syndrome
Cerebellar Atrophy with Seizures and Variable Developmental Delay
Cerebellar Hypoplasia with Endosteal Sclerosis
Child Behavior Disorders +
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies
deafness-dystonia-optic neuronopathy syndrome
developmental coordination disorder
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities
Developmental Delay, Epilepsy, and Neonatal Diabetes
Developmental Disabilities +
Diencephalic-Mesencephalic Junction Dysplasia Syndromes +
Drug Resistant Epilepsy +
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
early-onset vitamin B6-dependent epilepsy
electroclinical syndrome +
ENDOVE SYNDROME, LIMB-BRAIN TYPE
EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY
Epilepsy, Hearing Loss, and Mental Retardation Syndrome
Epilepsy, Occipital Calcifications
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
Focal Cortical Dysplasia of Taylor +
GABRIELE-DE VRIES SYNDROME
glaucomatous atrophy of optic disc
Glycosylphosphatidylinositol Deficiency +
Gurrieri Sammito Bellussi Syndrome
Hereditary Optic Atrophies +
IMAGAWA-MATSUMOTO SYNDROME
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
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 PAROXYSMAL DYSKINESIA OR SEIZURES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
Intellectual Developmental Disorder with Seizures and Language Delay
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES
intellectual disability +
Kahn-Kahn-Katsanis Syndrome
Kaya-Barakat-Masson Syndrome
Kohlschutter-Tonz syndrome
LESSEL-KREIENKAMP SYNDROME
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
Lopes-Maciel-Rodan Syndrome
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Microcephaly, Epilepsy, and Diabetes Syndrome
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations
Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
Myopathy, Epilepsy, and Progressive Cerebral Atrophy
Nabais Sa-de Vries Syndrome, Type 1
Nabais Sa-de Vries Syndrome, Type 2
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities
Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
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 HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY
Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart
Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY
Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES
Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY
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 SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS
O'Donnell-Luria-Rodan Syndrome
Okur-Chung Neurodevelopmental Syndrome
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES
Pervasive Child Development Disorders +
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation
Pilarowski-Bjornsson Syndrome
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
Reactive Attachment Disorder
Retinal Degeneration and Epilepsy
Sandhaus Ben-Ami Syndrome
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
separation anxiety disorder
Silengo Lerone Pelizza Syndrome
Skraban-Deardorff Syndrome
Spastic Cerebral Palsy, Quadriplegic, 1
Spastic Cerebral Palsy, Quadriplegic, 2
Spastic Paraplegia and Psychomotor Retardation with or without Seizures
Spinocerebellar Ataxia with Epilepsy
STANKIEWICZ-ISIDOR SYNDROME
stereotypic movement disorder +
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
syndromic X-linked intellectual disability Hedera type
Treft Sanborn Carey Syndrome
Trichohepatoneurodevelopmental Syndrome
X-linked epilepsy with variable learning disabilities and behavior disorders
X-Linked Mental Retardation Gustavson Type
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