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Abetalipoproteinemia Neuropathy
adult-onset ataxia and polyneuropathy
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 with Fasciculations
Ataxia with Myoclonic Epilepsy and Presenile Dementia
Ataxia, Deafness, and Cardiomyopathy
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
Ataxia-Microcephaly-Cataract Syndrome
Atonic-Astatic Syndrome of Foerster
Auditory Perceptual Disorders +
Autosomal Dominant Intellectual Developmental Disorder 60
autosomal recessive spinocerebellar ataxia 12
Baraitser-Winter syndrome +
Benign Childhood Paroxysmal Tonic Upgaze with Ataxia
Beta-Amino Acids, Renal Transport of
Bhaskar Jagannathan Syndrome
Borjeson-Forssman-Lehmann syndrome
Boudhina Yedes Khiari syndrome
branched-chain keto acid dehydrogenase kinase deficiency
BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME
Branchial Arch Syndrome X-Linked
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Carnitine Acetyltransferase Deficiency
Cataracts, Ataxia, Short Stature, and Mental Retardation
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis +
Cerebellar Atrophy with Seizures and Variable Developmental Delay
Cerebroretinal Microangiopathy with Calcifications and Cysts +
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
chromosome 6pter-p24 deletion syndrome
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
coenzyme Q10 deficiency disease +
Cognitive Impairment with or Without Cerebellar Ataxia
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus
Conductive Hearing Loss +
Cone-Rod Dystrophy and Hearing Loss +
Congenital Cataracts, Hearing Loss, and Neurodegeneration
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies
Consciousness Disorders +
Deafness Hyperuricemia Neurologic Ataxia
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Deafness-Craniofacial Syndrome
Developmental Delay, Epilepsy, and Neonatal Diabetes
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
Drug Resistant Epilepsy +
Ehlers-Danlos syndrome kyphoscoliotic type 2
electroclinical syndrome +
Epilepsy, Occipital Calcifications
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
familial isolated deficiency of vitamin E
Focal Cortical Dysplasia of Taylor +
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine
Glycosylphosphatidylinositol Deficiency +
Gurrieri Sammito Bellussi Syndrome
Hearing Loss, Mixed Conductive-Sensorineural +
hereditary spastic paraplegia 75
High-Frequency Hearing Loss +
Huntington's disease-like 2
hypomyelinating leukodystrophy 7
hypotonia, ataxia, and delayed development syndrome
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response
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
Iris Dysplasia Hypertelorism Deafness
Kohlschutter-Tonz syndrome
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA
Leukoencephalopathy with Ataxia
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Microcephaly, Epilepsy, and Diabetes Syndrome +
microcephaly, growth deficiency, seizures, and brain malformations
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microtia, Hearing Impairment, and Cleft Palate
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Mitochondrial Myopathy, and Ataxia
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
Myopathy, Epilepsy, and Progressive Cerebral Atrophy
NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy
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 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 eye movement abnormalities and ataxia
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY
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 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, 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 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, SEIZURES, AND BRAIN ABNORMALITIES
Odontochondrodysplasia 2 with Hearing Loss and Diabetes
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME
Osteootohepatoenteric Syndrome
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
polyhydramnios, megalencephaly, and symptomatic epilepsy
Posterior Column Ataxia with Retinitis Pigmentosa
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
progressive myoclonus epilepsy 1B
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
pyridoxamine 5'-phosphate oxidase deficiency
pyridoxine-dependent epilepsy +
Reardon Wilson Cavanagh Syndrome
Retinal Degeneration and Epilepsy
Sandhaus Ben-Ami Syndrome
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
sensorineural hearing loss +
Sensory Ataxia, Autosomal Dominant
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Spastic Paraplegia, Ataxia, and Mental Retardation
Spinocerebellar Ataxia with Epilepsy
Spinocerebellar Ataxias +
spondyloepimetaphyseal dysplasia, Genevieve-type
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
subjective cognitive decline
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disability Hedera type
Tapetoretinal Degeneration with Ataxia
Treft Sanborn Carey Syndrome
Tremor of Intention, Ataxia, and Lipofuscinosis
Tryptophanuria with Dwarfism
Unilateral Hearing Loss +
uveal coloboma-cleft lip and palate-intellectual disability
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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