|
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 intellectual developmental disorder 1
autosomal recessive intellectual developmental disorder 10/20
autosomal recessive intellectual developmental disorder 11
autosomal recessive intellectual developmental disorder 12
autosomal recessive intellectual developmental disorder 13
autosomal recessive intellectual developmental disorder 14
autosomal recessive intellectual developmental disorder 16
autosomal recessive intellectual developmental disorder 18
autosomal recessive intellectual developmental disorder 2
autosomal recessive intellectual developmental disorder 23
autosomal recessive intellectual developmental disorder 24
autosomal recessive intellectual developmental disorder 25
autosomal recessive intellectual developmental disorder 27
autosomal recessive intellectual developmental disorder 28
autosomal recessive intellectual developmental disorder 29
autosomal recessive intellectual developmental disorder 3
autosomal recessive intellectual developmental disorder 30
autosomal recessive intellectual developmental disorder 31
autosomal recessive intellectual developmental disorder 33
autosomal recessive intellectual developmental disorder 34
autosomal recessive intellectual developmental disorder 35
autosomal recessive intellectual developmental disorder 37
autosomal recessive intellectual developmental disorder 38
autosomal recessive intellectual developmental disorder 39
autosomal recessive intellectual developmental disorder 4
autosomal recessive intellectual developmental disorder 40
autosomal recessive intellectual developmental disorder 41
autosomal recessive intellectual developmental disorder 43
autosomal recessive intellectual developmental disorder 44
autosomal recessive intellectual developmental disorder 45
autosomal recessive intellectual developmental disorder 46
autosomal recessive intellectual developmental disorder 47
autosomal recessive intellectual developmental disorder 48
autosomal recessive intellectual developmental disorder 5
autosomal recessive intellectual developmental disorder 50
autosomal recessive intellectual developmental disorder 51
autosomal recessive intellectual developmental disorder 52
autosomal recessive intellectual developmental disorder 54
autosomal recessive intellectual developmental disorder 56
autosomal recessive intellectual developmental disorder 57
autosomal recessive intellectual developmental disorder 58
autosomal recessive intellectual developmental disorder 59
autosomal recessive intellectual developmental disorder 6
autosomal recessive intellectual developmental disorder 60
autosomal recessive intellectual developmental disorder 61
autosomal recessive intellectual developmental disorder 63
autosomal recessive intellectual developmental disorder 64
autosomal recessive intellectual developmental disorder 65
autosomal recessive intellectual developmental disorder 66
autosomal recessive intellectual developmental disorder 67
autosomal recessive intellectual developmental disorder 68
autosomal recessive intellectual developmental disorder 69
autosomal recessive intellectual developmental disorder 7
autosomal recessive intellectual developmental disorder 70
autosomal recessive intellectual developmental disorder 71
autosomal recessive intellectual developmental disorder 72
autosomal recessive intellectual developmental disorder 73
autosomal recessive intellectual developmental disorder 74
autosomal recessive intellectual developmental disorder 75
autosomal recessive intellectual developmental disorder 76
autosomal recessive intellectual developmental disorder 77
Autosomal Recessive Intellectual Developmental Disorder 78
Autosomal Recessive Intellectual Developmental Disorder 79
Autosomal Recessive Intellectual Developmental Disorder 80
Autosomal Recessive Intellectual Developmental Disorder 81
autosomal recessive intellectual developmental disorder 82
autosomal recessive intellectual developmental disorder 9/26
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
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY
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
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease
Developmental Delay, Epilepsy, and Neonatal Diabetes
developmental delay, hypotonia, and impaired language
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
Developmental Delay, Language Impairment, and Ocular Abnormalities
Drug Resistant Epilepsy +
early onset progressive encephalopathy with brain atrophy and thin corpus callosum
electroclinical syndrome +
Epilepsy, Occipital Calcifications
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
Focal Cortical Dysplasia of Taylor +
glycosylphosphatidylinositol biosynthesis defect 16
Glycosylphosphatidylinositol Deficiency +
guanidinoacetate methyltransferase deficiency
Gurrieri Sammito Bellussi Syndrome
hyperphosphatasia with impaired intellectual development syndrome +
infantile hypotonia with psychomotor retardation and characteristic facies-3
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Intellectual Developmental Disorder with Autism and Speech Delay
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 hypotonia, impaired speech, and dysmorphic facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM
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 with Speech Delay and Axonal Peripheral Neuropathy
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
Intellectual Developmental Disorder, Autosomal Recessive 19
intellectual disability-severe speech delay-mild dysmorphism syndrome
Kohlschutter-Tonz syndrome
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 49
Mental Retardation, Autosomal Recessive 53
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Microcephaly, Epilepsy, and Diabetes Syndrome +
microcephaly, growth deficiency, seizures, and brain malformations
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 Language Delay with or Without Structural 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 brain abnormalities, poor growth, and dysmorphic facies
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
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 Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY
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, SEIZURES, AND ABSENT LANGUAGE
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 An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22. (DO)
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
Neurodevelopmental Disorder with Microcephaly and Gray Sclerae
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
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 motor and language delay, ocular defects, and brain abnormalities
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY
neurodevelopmental disorder with poor growth and behavioral abnormalities
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
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 and poor growth
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES
Neurodevelopmental Disorder with Speech Impairment and with or without Seizures
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
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
Snijders Blok-Campeau Syndrome
spastic tetraplegia, thin corpus callosum, and progressive microcephaly
specific language impairment +
speech-language disorder-1
Spinocerebellar Ataxia with Epilepsy
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
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
|
|