Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617787 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Megalencephaly With Dysmyelination |
|
Megalencephaly, EEG with photoparoxysmal response, Seizure, Ataxia, Spasticity, Abnormal cerebral... |
OMIM:249240 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Dystonia, Jerky head movements, Torticollis, Focal dyston... |
ORPHA:98807 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1 |
|
Megalencephaly, Diffuse swelling of cerebral white matter, Seizure, Ataxia, Spasticity, Diffuse s... |
OMIM:604004 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Spastic tetraplegia, Seizure, Pachygyria, Ataxia, Inability to walk, EEG abnormality, Cerebellar ... |
OMIM:618174 |
Angelman syndrome (Type 1) |
|
Seizure, EEG abnormality, Truncal ataxia, Microcephaly |
DECIPHER:4 |
Angelman syndrome (Type 2) |
|
Seizure, EEG abnormality, Truncal ataxia, Microcephaly |
DECIPHER:54 |
Intellectual Developmental Disorder, Autosomal Recessive 53 |
|
Seizure, Ataxia, EEG with focal spikes, Cerebellar hypoplasia, Cerebral atrophy, Hypoplasia of th... |
OMIM:616917 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Myoclonic status epilepticus, Cerebellar atrophy, Myoclonic seizure, Bilateral tonic-clonic seizu... |
OMIM:611726 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea, Abnormal head movements |
OMIM:616939 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Clumsiness, Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal impaired awareness seizure,... |
OMIM:610003 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Unilateral Hemispheric Polymicrogyria |
|
Focal atonic seizure, EEG with focal epileptiform discharges, Cerebral hypoplasia, Bilateral toni... |
ORPHA:101071 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Gait disturbance, Babinski sign, Cerebellar atrophy, Bilateral tonic-clonic seizure, Rigidity, Fa... |
OMIM:300423 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... |
OMIM:618587 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Babinski sign, Spastic tetraplegia, Seizure, Hyperactivity, Progressive microcephaly, Inability t... |
OMIM:616657 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure, Continuous spike and waves during slow sleep, Focal impaired awar... |
OMIM:245570 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Rare Non-Syndromic Intellectual Disability |
|
Dystonia, Bilateral tonic-clonic seizure, Dysgenesis of the basal ganglia, Absent septum pellucid... |
ORPHA:101685 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... |
OMIM:601068 |
Dravet Syndrome |
|
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... |
OMIM:607208 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal corpus callosum morphology, Stereotypy, Seizure, Ataxia, Hydrocephalus, Attention defici... |
OMIM:618709 |
Familial Focal Epilepsy With Variable Foci |
|
Simple febrile seizure, EEG with focal epileptiform discharges, Paresthesia, Bilateral tonic-clon... |
ORPHA:98820 |
Jeavons Syndrome |
|
EEG with hyperventilation-induced epileptiform discharges, Febrile seizure (within the age range ... |
ORPHA:139431 |
Autism, Susceptibility To, X-Linked 4 |
|
Attention deficit hyperactivity disorder, Motor tics |
OMIM:300830 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Stereotypy, Seizure, Ataxia, Progressive microcephaly, Tremor, Hypoplasia of ... |
OMIM:617862 |
Continuous Spikes And Waves During Sleep |
|
Clumsiness, Interictal epileptiform activity, Focal impaired awareness seizure, Seizure, Continuo... |
ORPHA:725 |
Developmental And Epileptic Encephalopathy 6B |
|
Focal hemiclonic seizure, Dystonia, Generalized non-motor (absence) seizure, Tonic seizure, Bilat... |
OMIM:619317 |
Developmental Delay With Dysmorphic Facies And Dental Anomalies |
|
Seizure, Ataxia, EEG abnormality, Spasticity, Microcephaly |
OMIM:619228 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... |
ORPHA:36387 |
Progressive Myoclonic Epilepsy Type 3 |
|
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:263516 |
New-Onset Refractory Status Epilepticus |
|
Cerebellar edema, Focal T2 hyperintense basal ganglia lesion, Focal impaired awareness seizure, B... |
ORPHA:363558 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Stereotypy |
OMIM:300271 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Cerebellar atrophy, Toni... |
OMIM:618917 |
Pontocerebellar Hypoplasia, Type 14 |
|
Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Myoclonic sei... |
OMIM:619301 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Continuous spike and waves during slow sleep, EEG with generalized epileptiform discharges, Speec... |
ORPHA:163721 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, EEG with focal epileptiform discharges, Large basal ganglia, Chorea, EEG with generaliz... |
ORPHA:88616 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities |
|
Seizure, Status epilepticus, Attention deficit hyperactivity disorder, Gait ataxia, Microcephaly |
OMIM:618687 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... |
OMIM:613608 |
Huntington Disease-Like 1 |
|
Clumsiness, Gait disturbance, Involuntary movements, Cerebellar atrophy, Jerky head movements, Fr... |
ORPHA:157941 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Simplified gyral pattern, Seizure, Hyperactivity, Progressive microcephaly, A... |
OMIM:613402 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Myoclonus, Enhancement of the C-... |
OMIM:615127 |
Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Dystonia, Bilateral tonic-clonic seizure, Infantile spas... |
OMIM:619302 |
Unilateral Focal Polymicrogyria |
|
EEG with temporal focal spikes, Abnormality of somatosensory evoked potentials, EEG with occipita... |
ORPHA:268947 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Gait disturbance, Dystonia, Leukoencephalopathy, Abnormality of extrapyramidal motor function, Se... |
OMIM:614561 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Episodic Ataxia, Type 9 |
|
Dystonia, Tonic seizure, Bilateral tonic-clonic seizure, Cerebellar edema, Seizure, Clonic seizur... |
OMIM:618924 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, Focal impaired a... |
ORPHA:330050 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Gait imbalance, Bilateral tonic-clonic seizure, Gait ataxia, Seizure, EEG wit... |
ORPHA:488635 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Seizure, Hyperactivity, Inability to w... |
OMIM:618090 |
Developmental And Epileptic Encephalopathy 56 |
|
Poor coordination, Seizure, Ataxia, Status epilepticus, EEG abnormality, Broad-based gait, Attent... |
OMIM:617665 |
Familial Infantile Myoclonic Epilepsy |
|
Clumsiness, Simple febrile seizure, Gait disturbance, Cerebellar atrophy, Limb myoclonus, EEG wit... |
ORPHA:352582 |
Microcephaly 25, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder |
OMIM:618351 |
Episodic Kinesigenic Dyskinesia 2 |
|
Involuntary movements, Paroxysmal dyskinesia, Dystonia, Chorea |
OMIM:611031 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Ata... |
OMIM:617831 |
Developmental And Epileptic Encephalopathy 58 |
|
Hypsarrhythmia, Stereotypy, Seizure, Status epilepticus, Inability to walk, Spastic diplegia, Sec... |
OMIM:617830 |
Developmental And Epileptic Encephalopathy 34 |
|
Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal ... |
OMIM:616645 |
Cortical Malformations, Occipital |
|
Pachygyria, Polymicrogyria, EEG abnormality, Bilateral tonic-clonic seizure |
OMIM:614115 |
Landau-Kleffner Syndrome |
|
Focal impaired awareness seizure, Seizure, Continuous spike and waves during slow sleep, Interict... |
ORPHA:98818 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Cerebral white matter hypoplasia, Lissencephaly, Spastic tetraplegia, Seizure... |
OMIM:618730 |
Isolated Focal Cortical Dysplasia |
|
Abnormal cortical gyration, Infantile spasms, Nocturnal seizures, Abnormal neuron morphology, Foc... |
ORPHA:65683 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Leukoencephalopathy, Focal impaired awareness seizure, Stereotypy, Seizure, Cerebral atrophy, Bil... |
ORPHA:178469 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Optic disc pallor, Retinal thinning |
OMIM:618970 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Seizure, Ataxia, Hypertonia, Olivopontocerebellar atrophy, EEG abnormality, Cerebral cortical atr... |
ORPHA:2732 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Dystonia, Bilateral tonic-clonic seizure, Interictal epileptiform activity, Myoclonic seizure, Se... |
OMIM:619157 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Myoclonus, Seizure, Ataxia, EEG abnormality, Cerebral atrophy |
OMIM:600143 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia, Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Early... |
ORPHA:3006 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Gilles De La Tourette Syndrome |
|
Attention deficit hyperactivity disorder, Phonic tics, Motor tics |
OMIM:137580 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure |
ORPHA:22 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Schizencephaly, Abnormal corpus callosum morphology, Simplified gyral pattern, Hemiparesis, Seizu... |
OMIM:604317 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Poor coordination, Focal motor status epilepticus, Paroxysmal dyskinesia, Chorea, Falls... |
OMIM:619150 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Rasmussen Subacute Encephalitis |
|
EEG with focal epileptiform discharges, Interictal epileptiform activity, Focal impaired awarenes... |
ORPHA:1929 |
Bilateral Generalized Polymicrogyria |
|
Stereotypy, Focal-onset seizure, Oculogyric crisis, Generalized tonic seizure, Abnormal hippocamp... |
ORPHA:208447 |
Huntington Disease-Like 3 |
|
Dystonia, Caudate atrophy, Chorea, Abnormal head movements, Abnormality of extrapyramidal motor f... |
ORPHA:157946 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Bilateral tonic-clonic seizure... |
ORPHA:382 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... |
OMIM:600512 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Dystonia, Chorea, Convulsive status epilepticus, Inability to walk, Stereotypical hand wringing, ... |
OMIM:618760 |
Developmental And Epileptic Encephalopathy 26 |
|
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmi... |
OMIM:616056 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Tremor, Inabili... |
OMIM:617810 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Bilateral tonic-clonic seizure, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movem... |
OMIM:618425 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Diffuse white matter abnormalities, Cerebellar atrophy, Megalencephaly, Diffuse swelling of cereb... |
OMIM:613925 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Falls, EEG with focal sharp slow waves, Hyperactivity,... |
ORPHA:2382 |
Smith-Magenis syndrome |
|
Hyperactivity, Stereotypy |
DECIPHER:8 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Spasticity, Secondary microcephaly, Hypoplasia of the corpus call... |
OMIM:616281 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Stereotypy |
OMIM:606053 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired proprioception, Dystonia, Babinski sign, Jerky head movements, Spastic gait, Spastic dys... |
ORPHA:251282 |
X-Linked Intellectual Disability, Hedera Type |
|
Gait disturbance, Babinski sign, Cerebellar atrophy, Bilateral tonic-clonic seizure, Frequent fal... |
ORPHA:93952 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Stereotypy, Seizure, Corpus callosum atrophy, Focal-onset seizure, Cerebral atrophy, EEG with spi... |
ORPHA:168491 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Bilateral tonic-clonic seizure, Cerebellar atrophy, Cortical dysplasia, Microcephaly |
OMIM:608278 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Spastic tetraplegia, Stereotypy, Seizure, Clonic seizure, Hypertonia, Polymicrogyria, Secondary m... |
OMIM:615282 |
Lissencephaly 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:618873 |
Periventricular Nodular Heterotopia 8 |
|
Seizure, Spasticity, Attention deficit hyperactivity disorder, Microcephaly |
OMIM:618185 |
Alternating Hemiplegia Of Childhood 1 |
|
Dystonia, Episodic quadriplegia, Bilateral tonic-clonic seizure, Choreoathetosis, Tetraplegia, Ep... |
OMIM:104290 |
Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Hypsarrhythmia, Stereotypy, Seizure, Generalized myoclonic seizure |
OMIM:616341 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Seizure, Tremor, Focal sensory seizure, Focal sensory seizure wit... |
OMIM:615400 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Benign Familial Infantile Epilepsy |
|
Generalized clonic seizure, Normal interictal EEG, Limb myoclonus, Bilateral tonic-clonic seizure... |
ORPHA:306 |
Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Seizur... |
OMIM:604213 |
Developmental And Epileptic Encephalopathy 45 |
|
Seizure, Ataxia, Hypoplasia of the corpus callosum, Hypsarrhythmia |
OMIM:617153 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Bilateral tonic-clonic seizure, Rigidity, Bradykinesia, Tremor, Ataxia, EEG abnormality... |
OMIM:617836 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Simplified gyral pattern, Stereotypy, Seizure, Hyperactivity, Periventricular white matter hyperi... |
OMIM:619470 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Seizure, Bilateral tonic-clonic seizure with focal onset, Cerebellar atrophy, EEG abnormality |
OMIM:617643 |
N-Acetylaspartate Deficiency |
|
Stereotypy, Seizure, Truncal ataxia, Unsteady gait, Microcephaly |
OMIM:614063 |
Microlissencephaly |
|
Cerebellar atrophy, Neuronal loss in the cerebral cortex, Simplified gyral pattern, Lissencephaly... |
ORPHA:1083 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Interictal epileptiform activity, EEG with spike-wave complexes, ... |
OMIM:254800 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Focal impaired awareness seizure, Seizure... |
ORPHA:208441 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Stereotypy, Seizure, Spasticity, Cerebral atrophy, Difficulty walking, Microcephaly |
OMIM:617393 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
|
Hypertonia, Normal interictal EEG, Bilateral tonic-clonic seizure |
OMIM:269720 |
Juvenile Huntington Disease |
|
Dystonia, Neuronal loss in basal ganglia, Cerebellar atrophy, Rigidity, Chorea, Myoclonus, Bradyk... |
ORPHA:248111 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Hyperglycemia, Myoclonic seizure, Hypsarrhythmia, Bilateral tonic... |
OMIM:618856 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Abnormality of the urinary system, Macroglossia, Hyperglycemia, Diabetic ketoa... |
ORPHA:99886 |
Cln5 Disease |
|
Clumsiness, Seizure, Corpus callosum atrophy, Focal-onset seizure, EEG with spike-wave complexes,... |
ORPHA:228360 |
Bilateral Frontoparietal Polymicrogyria |
|
Gait imbalance, Typical absence seizure, Cerebellar dysplasia, Hypoplasia of the pons, Seizure, C... |
ORPHA:101070 |
Severe Canavan Disease |
|
Babinski sign, Megalencephaly, Bilateral tonic-clonic seizure, Cerebral white matter atrophy, Sei... |
ORPHA:314911 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Attention deficit hyperactivity disorder, Inability to walk, Lower limb spasticity, Bilateral ton... |
OMIM:619639 |
Foxg1 Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Choreoathetosis, Myoclonus, Abnormal ... |
ORPHA:561854 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Seizu... |
OMIM:615362 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Multifocal epileptiform discharges, S... |
OMIM:609056 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Hyperglycemia, Malabso... |
OMIM:615710 |
Alpers-Huttenlocher Syndrome |
|
Progressive spasticity, Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Paraparesis, ... |
ORPHA:726 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Stereotypy |
OMIM:608631 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Upper limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Focal tonic seizure, Cho... |
ORPHA:485350 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-induced seizure, Focal... |
OMIM:614417 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Seizure, Hyperactivity, Ataxia, Tremor, Tetraparesis, Cerebral atrophy, Spas... |
OMIM:615924 |
Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Po... |
ORPHA:86909 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Retinal dysplasia |
OMIM:615041 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Periventricular white mat... |
OMIM:301008 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, EEG with spike-wave complexes, Falls, Chin myoclonus, Focal seizu... |
ORPHA:139426 |
Hyperreflexia |
|
Abnormality of retinal pigmentation, Ankle clonus |
OMIM:145290 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Spastic hemiparesi... |
OMIM:619616 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... |
ORPHA:289266 |
Neurodegeneration With Brain Iron Accumulation |
|
Optic atrophy, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor function... |
ORPHA:385 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Clumsiness, Cerebellar atrophy, Bilateral tonic-clonic seizure, Frequent falls, EEG with generali... |
ORPHA:1947 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Spasticity |
OMIM:615493 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Attention deficit hyperactivity dis... |
OMIM:619191 |
Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Bilateral tonic-clonic seizure, Abnormality of extrapyramidal motor function, F... |
ORPHA:275864 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Esophageal varix, Dehydration, Hepatic cysts, Tubulointerstitial ... |
OMIM:263200 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Pseudobulbar paralysis, Polymicrogyria, Bilateral tonic-clonic seizure |
OMIM:300388 |
Developmental And Epileptic Encephalopathy 97 |
|
Hypsarrhythmia, Seizure, Tremor, Inability to walk, Stereotypical hand wringing, Epileptic spasm |
OMIM:619561 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Babinski sign, Cerebellar atrophy, Seizure, Ataxia, Spasticity, Limb ataxia, Gait ataxia, Microce... |
OMIM:614322 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Ketonuria, Renal tubular dysfunction, Pancreatic hypoplasia, Hyperglycemia,... |
ORPHA:99885 |
Developmental And Epileptic Encephalopathy 4 |
|
Bilateral tonic-clonic seizure, Hypsarrhythmia, Spastic tetraplegia, Tremor, EEG with burst suppr... |
OMIM:612164 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Myoclonus, Leukoencephalopathy, Abnormality of extrapyramidal motor function, Seizure, Ataxia, Ce... |
OMIM:204300 |
Brain Small Vessel Disease 2 |
|
Bilateral tonic-clonic seizure, Schizencephaly, Spastic tetraplegia, Porencephalic cyst, Polymicr... |
OMIM:614483 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Simplified gyral pattern, Seizure, Cerebellar hypoplasia, Attention defici... |
OMIM:608716 |
Leber Congenital Amaurosis 2 |
|
Eye poking, Cerebellar vermis hypoplasia, Fundus atrophy, Pigmentary retinopathy |
OMIM:204100 |
Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:615369 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic dysar... |
ORPHA:313772 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Renal steatosis, Impaired gl... |
OMIM:261680 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebellar cyst, Seizure, Polymicrogyria, Cerebral atrophy, Partial agenesis of the corpus callos... |
ORPHA:79243 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Seizure, Hyperactivity, Status epilepticus, A... |
OMIM:271980 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Chiari malformation, Seizure, Porencephalic cyst, Attention deficit hyperactivity disorder, Micro... |
ORPHA:254351 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Babinski sign, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Chorea, T... |
OMIM:618093 |
Autism |
|
Seizure, EEG abnormality, Stereotypy |
OMIM:209850 |
Autism, Susceptibility To, X-Linked 3 |
|
Seizure, EEG abnormality, Stereotypy |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Seizure, EEG abnormality, Stereotypy |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Seizure, EEG abnormality, Stereotypy |
OMIM:300425 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Seizure, EEG abnormality, Stereotypy |
OMIM:608636 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration, Gastroesophageal reflux, Methylmalonic aciduria, Ketonuria |
OMIM:251120 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure |
OMIM:611364 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Cerebral white matter atrophy, Lower limb spasticity, S... |
ORPHA:464282 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Jerky head movements, Limb myoclonus, Rigidity, Frequent falls, Limb aprax... |
ORPHA:240103 |
Enteric Anendocrinosis |
|
Malabsorption, Cholestatic liver disease, Type I diabetes mellitus, Portal hypertension, Dehydration |
ORPHA:83620 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Lower limb spasticity, Iron accumulation in globus pallidus, Seizure, Ataxia,... |
OMIM:619389 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Cerebral white matter hypoplasia, Hypsarrhythmia, Seizure, Stereotypical hand wringing, Spasticit... |
ORPHA:500545 |
Aminoacylase 1 Deficiency |
|
Seizure, Hyperactivity, Cerebellar atrophy, Cerebral atrophy |
OMIM:609924 |
Hyperprolinemia, Type I |
|
Stereotypy, Seizure, Hyperactivity, Status epilepticus, Ataxia, EEG abnormality |
OMIM:239500 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Dystonia, Paresthesia, Bilateral tonic-clonic seizure, Choreoathetosis, Paroxysmal dyskinesia, Ep... |
ORPHA:53583 |
Lissencephaly 3 |
|
Lissencephaly, Spastic tetraplegia, Seizure, Pachygyria, Ataxia, Cerebellar vermis hypoplasia, Po... |
OMIM:611603 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Seizure, Tremor, Status epilepticu... |
ORPHA:529665 |
Developmental And Epileptic Encephalopathy 92 |
|
Dystonia, Myoclonus, Seizure, Ataxia, Inability to walk, EEG abnormality, Spasticity, Secondary m... |
OMIM:617829 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Bilateral tonic-clonic seizure, Infantile spasms, Colpocephaly, Seizu... |
ORPHA:250972 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Glycosuria, Abnormality of the gastrointestinal tract, Postprandial hypergl... |
ORPHA:2089 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Spasticity |
ORPHA:356996 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-moto... |
OMIM:254770 |
Developmental And Epileptic Encephalopathy 90 |
|
Babinski sign, Limb hypertonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure,... |
OMIM:301058 |
Autosomal Dominant Epilepsy With Auditory Features |
|
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Inter... |
ORPHA:101046 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Paroxysmal dyskinesia, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) s... |
OMIM:609446 |
Glut1 Deficiency Syndrome 1 |
|
Paralysis, Paroxysmal dystonia, Babinski sign, Choreoathetosis, Myoclonus, Paroxysmal lethargy, H... |
OMIM:606777 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Dehydration, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Infantile Cerebellar-Retinal Degeneration |
|
Athetosis, Cerebellar atrophy, Bilateral tonic-clonic seizure, Microcephaly, Ataxia, Progressive ... |
OMIM:614559 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Hypointensity of cerebral white matter on MRI, Seizure precipitated by febrile infection, Bilater... |
ORPHA:363549 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Renal hypoplasia, High palate, Oligohydramnios, Ketonuria |
OMIM:619053 |
Developmental And Epileptic Encephalopathy 11 |
|
Status epilepticus, Spastic tetraplegia, Bilateral tonic-clonic seizure |
OMIM:613721 |
Diarrhea 2, With Microvillus Atrophy |
|
Abnormal intestine morphology, Villous atrophy, Dehydration |
OMIM:251850 |
Spastic Ataxia 5, Autosomal Recessive |
|
Dystonia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic ataxi... |
OMIM:614487 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Seizure, Hyperactivity, EEG abnormality |
ORPHA:436151 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Myoclonus, Abnormal nervous system electrophysiology, Seizure, Ataxia, Cerebral atrophy |
OMIM:204500 |
3-Methylglutaconic Aciduria Type 1 |
|
Dystonia, Hypoglycemia, Seizure, Progressive cerebellar ataxia, Spastic tetraparesis, Abnormality... |
ORPHA:67046 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Bilateral tonic-clonic seizure, Chorea, Paroxysmal dyskinesia, Generalized-onset seizure, EEG wit... |
ORPHA:79137 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Postural tremor, Gait disturbance, Babinski sign, Bilateral tonic-clonic seizure, Lower limb spas... |
ORPHA:100988 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Rigidity, Giant somatosensory evoked potentials, Myoclonus, Intention tremor,... |
OMIM:618876 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Tonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, EEG with occipital epileptiform ... |
OMIM:619428 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Cerebellar atrophy, Myoclonic spasms, Bilateral tonic-clonic seizure, Poor motor coor... |
ORPHA:79264 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Babinski sign, Cerebellar atrophy, Spastic dysarthria, Stereotypy, Seizure, Microcephal... |
ORPHA:280763 |
Mody |
|
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypog... |
ORPHA:552 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Abnormal periphera... |
ORPHA:457205 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Seizure, Hyperactivity, Hypertonia, Tetraplegia, Cerebral atrophy, Agenesis of corpus callosum, M... |
OMIM:274270 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Babinski sign, Thalamic calcification, Rigidity, Bradykinesia, Seizure, Hypertonia, Generalized d... |
OMIM:618824 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... |
OMIM:607876 |
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Pachygyria, Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Bilateral tonic-clonic seizure, Cerebral white matter atrophy, Chorea, Waddling gait, Truncal ata... |
ORPHA:369840 |
Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Multifocal seizures, Tongue thrusting, Cerebellar vermis atrophy, Corpu... |
ORPHA:77299 |
Mental Retardation, Autosomal Dominant 52 |
|
Seizure, Hyperactivity |
OMIM:617796 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Limb hypertonia, Impaired pain sensation, Chorea, Abnormality of extrapyramidal motor f... |
ORPHA:500180 |
Encephalopathy Due To Prosaposin Deficiency |
|
Dystonia, Myoclonus, Bilateral tonic-clonic seizure |
ORPHA:139406 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder, Poor fine motor coordination |
OMIM:617182 |
Pitt-Hopkins-Like Syndrome 1 |
|
Stereotypy, Seizure, Hyperactivity, Ataxia, Generalized-onset seizure, EEG abnormality, Spasticit... |
OMIM:610042 |
Glycine Encephalopathy |
|
Myoclonus, Seizure, Hyperactivity, Agenesis of corpus callosum, Lethargy |
OMIM:605899 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar cyst, Head titubation, Cerebellar dysplasia, Retinal dystrophy, Dilated fourth ventric... |
ORPHA:370022 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Secondary microcephaly, Atonic seizure, Bilateral tonic-clonic seizure |
OMIM:309530 |
Polymicrogyria Due To Tubb2B Mutation |
|
Seizure, Polymicrogyria, Focal-onset seizure, Oromotor apraxia, Pachygyria, Attention deficit hyp... |
ORPHA:300573 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Dystonia, Babinski sign, Bilateral tonic-clonic seizure, Myoclonus, Ataxia, Spastic diplegia |
OMIM:619065 |
Developmental And Epileptic Encephalopathy 79 |
|
Tonic seizure, Myoclonic seizure, Migrating focal seizure, Seizure, Status epilepticus, Bilateral... |
OMIM:618559 |
Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
ORPHA:101039 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Seizure, Hyperactivity, Ataxia, Tremor, Spasticity, Hypoplasia of the corpus callosum, Cerebral c... |
OMIM:300983 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Absent septum pellucidum, Simplified gyral pattern, Seizure, Inability to walk, Spasticity, Cereb... |
OMIM:618492 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Hypoglycemia, Ketonuria |
OMIM:210200 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Babinski sign, Bilateral tonic-clonic seizure with generalized onset, Spasticity, Focal-onset sei... |
OMIM:618770 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria, Ketonuria |
OMIM:618857 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... |
OMIM:616461 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
Gilbert Syndrome |
|
Dehydration, Jaundice |
OMIM:143500 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hepatomegaly, Acute pancreatitis, Hyperglycemia |
OMIM:608600 |
Epilepsy, Progressive Myoclonic, 8 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:616230 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Limb hypertonia, Opisthotonus, Tonic seizure, Bilateral tonic-clonic seizure,... |
OMIM:619580 |
Atypical Rett Syndrome |
|
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Infantile spasms, Impaired pai... |
ORPHA:3095 |
Poretti-Boltshauser Syndrome |
|
Cerebellar cyst, Retinal atrophy, Dilated fourth ventricle, Retinal dystrophy, Cerebellar dysplas... |
OMIM:615960 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Stereotypical body rocking, Recurrent hand flapping, Poor coordination |
OMIM:309548 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Dysphagia, Hypoglycemia, Cryptorchidism, Dehydration |
OMIM:618958 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Microcephaly |
OMIM:616311 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperglycemia, Edema, Dehydration, Ketonuria |
ORPHA:134 |
Glutaric Acidemia I |
|
Hepatomegaly, Glutaric aciduria, Hypoglycemia, Ketonuria |
OMIM:231670 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Gait imbalance, EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Tongue th... |
ORPHA:98795 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Type II diabetes mellitus, Diffuse cerebellar atrophy, Abnormal head movements, Progressive gait ... |
ORPHA:247815 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Jerky head movements, Choreoathetosis, Ataxia, Oculomotor apraxia, Microcephaly |
OMIM:245348 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... |
OMIM:616948 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration, Dicarboxylic aciduria, Ketotic hypoglycemia |
ORPHA:79159 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Temporal cortical atrophy, Partial absence of cerebellar vermis, Caudate atrophy, Focal impaired ... |
ORPHA:137831 |
Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... |
ORPHA:1941 |
Mental Retardation, Autosomal Dominant 48 |
|
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Stereotypy, ... |
OMIM:617751 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... |
OMIM:618357 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Upper limb spasticity, Bilateral tonic-clonic seizure, Cerebellar dysplasia, St... |
ORPHA:457240 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Gait disturbance, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, B... |
ORPHA:98762 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure, EEG with spike-wave co... |
OMIM:619000 |
Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Stereotypy, Seizure, Hyperactivity, Inability to walk, Tremor, EEG abnormality, Spasticity, Micro... |
OMIM:618718 |
Fraxe Intellectual Disability |
|
Clumsiness, Stereotypical body rocking, Recurrent hand flapping, Hyperactivity |
ORPHA:100973 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Gait disturbance, Deep cerebral white matter hyperintensities, Bilateral tonic-clonic seizure, Ri... |
ORPHA:199354 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Lipid accumulation in hepatocytes, Edema, Jaundice, Recurrent hypoglycemia, Acute p... |
ORPHA:20 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Abnormal head movements |
ORPHA:71518 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... |
OMIM:617384 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Babinski sign, Generalized non-motor (absence) seizure, Leukoencephalopathy, Ataxia, Spasticity, ... |
OMIM:618242 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Paralysis, Dystonia, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, ... |
ORPHA:71277 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Choreoathetosis, Seizure, Hyperactivity, Ataxia, Tremor, Oculomotor apraxia, Spasticity... |
OMIM:612716 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Clumsiness, Bilateral tonic-clonic seizure, Seizure, Hyperactivity, Hydrocephalus, Generalized no... |
OMIM:300558 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, La... |
ORPHA:101110 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonic seizure, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Bilateral tonic-clonic seiz... |
OMIM:619092 |
Febrile Seizures, Familial, 11 |
|
Focal impaired awareness seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
OMIM:614418 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Interictal EEG abnormality, Dysmetria... |
ORPHA:79263 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Dehydration, Methylmalonic aciduria, Ketonuria |
OMIM:251110 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia, Ketonuria |
OMIM:616095 |
Kohlschutter-Tonz Syndrome |
|
Hypsarrhythmia, Seizure, Ataxia, Cerebellar hypoplasia, Spasticity, Cerebral atrophy |
OMIM:226750 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Hypoplasia of the pons, Myoclonus, Focal impaired awareness seizure, Hypsarrhyt... |
ORPHA:411986 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Cerebellar atrophy, Tongue fasciculations, Dysmetria, Seizure, Ataxia, Tremor, Cer... |
OMIM:618170 |
Cystinosis |
|
Renal tubular dysfunction, Dehydration, Malabsorption, Proteinuria, Type I diabetes mellitus, Nep... |
ORPHA:213 |
Epilepsy, Pyridoxine-Dependent |
|
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:266100 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Dehydration, Methylmalonic aciduria, Ketonuria |
OMIM:251100 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Morning myoclonic jer... |
OMIM:607682 |
Centralopathic Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with centrotemporal foc... |
OMIM:117100 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Frequent falls... |
ORPHA:2590 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... |
OMIM:600669 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... |
OMIM:300088 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Seizure, Ataxia, Corpus callosum atroph... |
OMIM:618088 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Progressive extrapyramidal movement disorder, Bilateral tonic-clonic seizure,... |
ORPHA:329308 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Early Infantile Epileptic Encephalopathy |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset seizure, Gene... |
ORPHA:1934 |
Pontocerebellar Hypoplasia Type 2 |
|
Abnormal cortical gyration, Paroxysmal dystonia, Babinski sign, Cerebellar cyst, Dysplastic corpu... |
ORPHA:2524 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Pachygyria, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal neuron morphology, Cerebral palsy, Interictal epileptiform activity, EEG with generalize... |
ORPHA:163681 |
Pontocerebellar Hypoplasia, Type 11 |
|
Poor coordination, Stereotypy, Seizure, Ataxia, Inability to walk, Broad-based gait, Spasticity, ... |
OMIM:617695 |
Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Ornithinuria, Malabsorption, Argininuria, Hyperlysinuria |
OMIM:222690 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Steppage gait, Seizure, Ataxia, Distal sensory impairment, Cerebral atrophy |
OMIM:607250 |
Dravet Syndrome |
|
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:33069 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestin... |
ORPHA:95427 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Parkinsonism, Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor... |
OMIM:617672 |
Pearson Marrow-Pancreas Syndrome |
|
Renal Fanconi syndrome, Malabsorption, Diabetes mellitus, Type I diabetes mellitus, 3-Methylgluta... |
OMIM:557000 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Dehydration |
ORPHA:28 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Ethylmalonic aciduria, Hypoglycemia, Dicarboxylic aciduria, Increased urine alpha-ketoglutarate c... |
OMIM:619355 |
Xq25 Microduplication Syndrome |
|
Seizure, Hyperactivity, Hypoplasia of the corpus callosum, Cerebellar hypoplasia |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Seizure, Hyperactivity, Hypoplasia of the corpus callosum, Cerebellar hypoplasia |
OMIM:300979 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Neonatal death, Hepatomegaly, Ketonuria, Lacticaciduria |
OMIM:619167 |
Spinocerebellar Ataxia 17 |
|
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Myoclonus, Bradykinesia, Positive Romb... |
OMIM:607136 |
Seizures, Benign Familial Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:121201 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Clumsiness, Cerebellar atrophy, Dysmetria, Myoclonus, Abnormal nervous system electrophysiology, ... |
OMIM:256731 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Myoclonic-Astatic Epilepsy |
|
EEG with focal spike waves, Interictal epileptiform activity, EEG with generalized slow activity,... |
ORPHA:1942 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Seizure, Progressive microcephaly, Hyperkinetic movements, Stereotypical hand wringing |
ORPHA:397933 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Tubulointerstitial nephritis, Methylmalonic aciduria, Pancreatitis, Stage 5 chronic... |
OMIM:251000 |
Greig Cephalopolysyndactyly Syndrome |
|
Seizure, Hydrocephalus, Agenesis of corpus callosum, Hyperglycemia |
OMIM:175700 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Hyperglycemia, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... |
OMIM:615986 |
Lafora Disease |
|
Gait disturbance, Bilateral tonic-clonic seizure, Lafora bodies, Giant somatosensory evoked poten... |
ORPHA:501 |
Glucose/Galactose Malabsorption |
|
Abnormal oral glucose tolerance, Hypertonic dehydration, Malabsorption, Glycosuria |
OMIM:606824 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Renal insufficiency, Dehydration |
ORPHA:79312 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Limb hypertonia, Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Fo... |
ORPHA:488613 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... |
OMIM:604403 |
Combined Malonic And Methylmalonic Acidemia |
|
Hypoglycemia, Dehydration, Dicarboxylic aciduria, Methylmalonic aciduria |
ORPHA:289504 |
Familial Renal Glucosuria |
|
Renal tubular dysfunction, Glycosuria, Recurrent urinary tract infections, Nephropathy, Dehydration |
ORPHA:69076 |
Folinic Acid-Responsive Seizures |
|
Dystonia, Cerebellar atrophy, Chorea, Hypsarrhythmia, EEG with generalized slow activity, Seizure... |
ORPHA:79097 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Progressive spasticity, Dystonia, Cerebellar atrophy, Head titubation, Seizure, Ataxia, Cerebral ... |
ORPHA:527497 |
Childhood Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Jerky head movements, Typical abse... |
ORPHA:64280 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Hyperglycemia, Seizure, Ataxia, Tremor |
OMIM:220111 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Stereotypy, Seizure, Attention deficit hyperactivity disorder, Microcephaly |
OMIM:618906 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Caudate atrophy, Insulin resistance, Myoclonus, Seizure, Hyperactivity, ... |
ORPHA:363400 |
Rolandic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Paresthesia, Dysesthesia, EEG with... |
ORPHA:1945 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... |
OMIM:619028 |
Mental Retardation, Autosomal Dominant 43 |
|
Seizure, Hyperactivity, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616977 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure |
OMIM:611630 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Involuntary movements, Paroxysmal dystonia, Increased theta frequency activity in EEG, Bilateral ... |
ORPHA:98784 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration, Methylmalonic aciduria |
OMIM:614265 |
Christianson Syndrome |
|
Dystonia, Cerebellar atrophy, Stereotypy, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Apl... |
ORPHA:85278 |
Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism |
OMIM:614203 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... |
OMIM:607681 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
Episodic Ataxia Type 4 |
|
Ataxia, Abnormal head movements, Incoordination, Frequent falls |
ORPHA:79136 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Stereotypy, Cerebral cortical atr... |
OMIM:600795 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Generalized aminoaciduria, Fasting hypoglycemia, Hepatocellular ... |
ORPHA:2088 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Pancreatitis, Dehydration |
ORPHA:27 |
Baker-Gordon Syndrome |
|
Involuntary movements, Dystonia, Choreoathetosis, Stereotypy, Ataxia, Inability to walk, Hyperkin... |
OMIM:618218 |
Pyruvate Carboxylase Deficiency |
|
Generalized clonic seizure, Dystonia, Hypoglycemia, Periventricular cysts, Infantile spasms, Cere... |
ORPHA:3008 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:601217 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Cerebellar atrophy, EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Infan... |
ORPHA:544503 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Involuntary movements, Dystonia, Clonus, Babinski sign, Hypoglycemia, Bilateral tonic-clonic seiz... |
ORPHA:480864 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... |
OMIM:607631 |
Amish Lethal Microcephaly |
|
Limb hypertonia, Bilateral tonic-clonic seizure, Cerebellar vermis hypoplasia, Spina bifida, Liss... |
ORPHA:99742 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Seizure, Spasticity, Recurrent hand flapping, Hypoplasia of the corpus callosum, Cerebral cortica... |
OMIM:618859 |
Fragile X Syndrome |
|
Seizure, Hyperactivity, Abnormal head movements |
OMIM:300624 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hepatic fibrosis, Long penis, Hyperglycemia, Pancreatic islet-cell hyperpla... |
OMIM:246200 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Seizures, Benign Familial Infantile, 1 |
|
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... |
OMIM:601764 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Abnormal intestine morphology, Generalized aminoaciduria, Renal tubular dysfunction, Hypoglycemia... |
OMIM:606528 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Cerebral white matter hypoplasia, Myoclonic seizure, Pachygyria, Hypertonia, Bilateral tonic-clon... |
OMIM:619091 |
Bilateral Polymicrogyria |
|
Perisylvian polymicrogyria, Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms,... |
ORPHA:268940 |
Developmental And Epileptic Encephalopathy 87 |
|
Infantile spasms, Hypsarrhythmia, Seizure, Hypertonia, Cerebral atrophy, Recurrent hand flapping |
OMIM:618916 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure |
OMIM:617080 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Opisthotonus, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Seizure, Hypertonia, Polymi... |
OMIM:615501 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Pancreatitis, Increased level of hippuric acid in urine, Hyperglycinu... |
OMIM:606054 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Gait disturbance, Bilateral tonic-clonic seizure, Lower limb spasticity, Abnormal cerebral white ... |
ORPHA:395 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Malabsorption, Cholestatic liver disease, Abnormal small intestinal mucosa morph... |
ORPHA:92050 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
EEG with frontal sharp slow waves, Limb hypertonia, Bilateral tonic-clonic seizure, Infantile spa... |
ORPHA:457351 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypoglycemia, Methylmalonic aciduria, Dehydration, Hemolytic-uremic syndrome, Jaundice, Glossitis... |
ORPHA:79282 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Stereotypy |
OMIM:615541 |
Dk1-Cdg |
|
Infantile spasms, Bilateral tonic-clonic seizure, Hypsarrhythmia, EEG with generalized slow activ... |
ORPHA:91131 |
Leber Congenital Amaurosis 1 |
|
Eye poking, Fundus atrophy, Pigmentary retinopathy |
OMIM:204000 |
Pancreatic And Cerebellar Agenesis |
|
Cerebellar agenesis, Hypoglycemia, Hyperglycemia, Seizure, Diabetes mellitus, Cerebellar hypoplas... |
OMIM:609069 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Seizure, Hyperactivity, Broad-based gait, Spasticity, Hypoplasia of the corpus callosum, Cortical... |
ORPHA:457260 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... |
OMIM:616685 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Microcephaly |
OMIM:608747 |
Leukodystrophy, Hypomyelinating, 2 |
|
Progressive spasticity, Dystonia, Babinski sign, Decreased motor nerve conduction velocity, Head ... |
OMIM:608804 |
Sarcosinemia |
|
Ataxia, Tetraparesis, Bilateral tonic-clonic seizure |
ORPHA:3129 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:609253 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia |
OMIM:616531 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Normal interictal EEG, Focal impaired awareness ... |
OMIM:607745 |
Autism, Susceptibility To, X-Linked 2 |
|
Seizure, EEG abnormality, Stereotypy |
OMIM:300495 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Increased circulating cortiso... |
OMIM:615954 |
Systemic Primary Carnitine Deficiency |
|
Clumsiness, Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Febrile seizure (within the age range of 3 months to 6 years), Stereotypy, Seiz... |
OMIM:614104 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Villous atrophy, Portal fibrosi... |
OMIM:619377 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperglycemia, Polycystic ovaries, Cirrho... |
OMIM:604367 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Dilation of lateral ventricles, Bilateral tonic-clonic seizure, Diabetes mellitus, Microcephaly |
OMIM:619278 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Spastic ataxia, Fasciculations, Cerebral atrophy, Abnormal pyramidal sign, Titubatio... |
ORPHA:397946 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Gait disturbance, Poor coordination, Abnormality of pain sensation, Eating-induced seizure, Tremo... |
ORPHA:544254 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:616172 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Hypoglycemia, Lacticaciduria, Pancreatitis, Hepatic steatosis, Aminoacidur... |
OMIM:619386 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Athetosis, Dystonia, Leukoencephalopathy, Seizure, Focal white matter lesions, Ataxia, Spasticity... |
OMIM:612951 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Myoclonus, Seizure, Ataxia, Hypertonia, Spasticity, Cerebral atrophy, Microce... |
OMIM:618426 |
Myoclonic Epilepsy Of Lafora |
|
Gait disturbance, Bilateral tonic-clonic seizure, Lafora bodies, Myoclonus, Bilateral tonic-cloni... |
OMIM:254780 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:613863 |
Mental Retardation, Autosomal Recessive 13 |
|
Seizure, Hyperactivity, Secondary microcephaly, Hypoplasia of the corpus callosum, Abnormal cereb... |
OMIM:613192 |
Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Ketonuria |
ORPHA:35706 |
Myopathy With Extrapyramidal Signs |
|
Clumsiness, Dystonia, Clonus, Perisylvian polymicrogyria, Hypoplastic anterior limbs of the inter... |
OMIM:615673 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, High palate, Ketonuria |
OMIM:614520 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Ketonuria |
OMIM:615751 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Proximal tubulopathy, Diabetes mellitus, Type I diabetes mellitus, Polyuria, Dehydr... |
OMIM:560000 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Gait ataxia, Microcephaly, Stereotypy |
OMIM:609425 |
Optic Atrophy 11 |
|
Dysmetria, Leukoencephalopathy, Hyperactivity, Ataxia, Hyperkinetic movements, Cerebellar hypopla... |
OMIM:617302 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cerebral palsy, Stereotypy, Seizure, Hyperactivity, Hypertonia, Repetitive compulsive behavior, S... |
ORPHA:352490 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hypoglycemia, Hyperglycinuria, Organic aciduria, Ketonuria |
OMIM:210210 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Parathyroid adenoma, Emphysema, Pulmonary sequestration |
ORPHA:122 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Seizure, Hyperactivity, Ataxia, EEG abnormality, Broad-based gait, Cessation of head growth |
ORPHA:411515 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Interictal epileptiform activity, Cerebral edema, Abno... |
ORPHA:79139 |
Cdkl5-Deficiency Disorder |
|
Gait disturbance, Infantile spasms, Impaired pain sensation, Multifocal epileptiform discharges, ... |
ORPHA:505652 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Gait ataxia, Seizu... |
OMIM:618877 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Seizure, Hyperactivity, Spasticity, Decreased response to growth hormone stimulation test, Agenes... |
OMIM:615286 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Aciduria |
OMIM:617950 |
Vipoma |
|
Hepatomegaly, Abnormal gastrointestinal motility, Benign gastrointestinal tract tumors, Ascites, ... |
ORPHA:97282 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Seizure, Hyperactivity, Microcephaly |
OMIM:300434 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Chorea, Lewy bodies, Bradykinesia, Intent... |
OMIM:610217 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Stereotypy, Seizure, Tetraparesis, Hypoplasia of the corpus callosum, Cerebral cortical atrophy |
ORPHA:85277 |
Reticular Dysgenesis |
|
Dehydration, Malabsorption |
ORPHA:33355 |
5Q14.3 Microdeletion Syndrome |
|
Agenesis of cerebellar vermis, Stereotypy, Seizure, Frontal cortical atrophy, Hypoplasia of the c... |
ORPHA:228384 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Central hypothyroidism, Ascites, Dehydration, Abnormality of the liver, Hypothyroid... |
ORPHA:1667 |
Angelman Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonus, Tongue thrusting, Seizure, Microceph... |
ORPHA:72 |
Xq28 (MECP2) duplication |
|
Progressive spasticity, Gait ataxia, Stereotypy, Seizure, Inability to walk, Hypoplasia of the co... |
DECIPHER:45 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, EEG with generalized epileptiform discharges, Fasting hyperinsulin... |
ORPHA:35878 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Tongue fasciculations, Upper limb spasticity, Bilateral tonic-clonic seizure,... |
OMIM:617193 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Protein-losing enteropathy, Hematochezia, Dehydration |
ORPHA:103910 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hemoglobinuria, Rectal prolapse, Peritonitis, Anuria, Acute colitis, Intestinal perforation, Panc... |
ORPHA:90038 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:613060 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Chorea, Spastic tetraplegia, Seizure, Microcephaly, Status epilepticus, Inability to walk, Hypert... |
OMIM:617864 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Lower limb spasticity, Hypsarrhy... |
OMIM:300912 |
Scorpion Envenomation |
|
Hyperglycemia, Edema, Glycosuria, Acute kidney injury, Pulmonary edema, Acute pancreatitis, Hyper... |
ORPHA:466677 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Dystonia, Stereotypy, Seizure, Cerebellar vermis hypoplasia, Spasticity, Unsteady gait, Gait atax... |
OMIM:617807 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Myoglobinuria, Hypoglycemia, Hypothyroidism, Oral-pharyngeal dysphagia, Ketonuria |
OMIM:616878 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:604233 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Secondary microcephaly, Broad-based gait, Bilateral tonic-clonic seizure, Stereotypy |
OMIM:616351 |
Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Fasting hypoglycemia, Type II diabetes mellitus, Insulin resi... |
ORPHA:2298 |
Epilepsy, Familial Temporal Lobe, 2 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... |
OMIM:608096 |
Myoclonic Epilepsy, Familial Infantile |
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Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:605021 |
Shukla-Vernon Syndrome |
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Cerebellar atrophy, Stereotypy, Seizure, Broad-based gait, Attention deficit hyperactivity disorder |
OMIM:301029 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Dysgenesis of the hippocampus, Torticollis, Spastic ataxia, Stereotypy, Seizure, Polymicrogyria, ... |
ORPHA:300570 |
Non-Specific Early-Onset Epileptic Encephalopathy |
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Involuntary movements, Limb hypertonia, Rigidity, EEG with multifocal slow activity, Myoclonus, A... |
ORPHA:442835 |
Intellectual Developmental Disorder, X-Linked 100 |
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Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:300923 |
Spinocerebellar Ataxia Type 17 |
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Involuntary movements, Dystonia, Gait disturbance, Parkinsonism, Cerebellar atrophy, Rigidity, Wr... |
ORPHA:98759 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
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Giant cell hepatitis, Nephrocalcinosis, Renal tubular acidosis, Cholestatic liver disease, Nephro... |
OMIM:208085 |
Autosomal Agammaglobulinemia |
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High palate, Hepatitis, Dehydration, Malabsorption |
ORPHA:33110 |
Ritscher-Schinzel Syndrome 4 |
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Athetosis, Dandy-Walker malformation, Dysgenesis of the hippocampus, Bilateral tonic-clonic seizu... |
OMIM:619435 |
Ornithine Transcarbamylase Deficiency |
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Pyloric stenosis, Aminoaciduria, Hypoglycemia, Splenomegaly |
ORPHA:664 |
Dentatorubral Pallidoluysian Atrophy |
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Involuntary movements, Impaired proprioception, Dyssynergia, Choreoathetosis, Dysmetria, Oromandi... |
ORPHA:101 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
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Tonic seizure, Infantile spasms, Hypsarrhythmia, Seizure, Hyperactivity, EEG with burst suppressi... |
OMIM:619239 |
Autism, Susceptibility To, 3 |
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Ketonuria |
OMIM:608049 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Myoclonus, Intention tremor, Seizure, Clonic seizure, Status epilepticus, Bilateral tonic-clonic ... |
OMIM:610539 |
Infantile Neuroaxonal Dystrophy |
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Progressive spasticity, Gait disturbance, Dystonia, Cerebellar atrophy, Abnormality of peripheral... |
ORPHA:35069 |
Developmental And Epileptic Encephalopathy 95 |
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Gait disturbance, Cerebellar atrophy, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Mul... |
OMIM:618143 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Progressive spasticity, Dystonia, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:496641 |
Ring Chromosome 21 Syndrome |
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Gait disturbance, Holoprosencephaly, Seizure, Bilateral tonic-clonic seizure with generalized ons... |
ORPHA:1445 |
Rett Syndrome |
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Gait disturbance, Dystonia, Limb apraxia, Bradykinesia, Primary microcephaly, Seizure, Stereotypy... |
ORPHA:778 |
Duodenal Atresia |
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Abnormality of the pancreas, Duodenal atresia, Polyhydramnios, Annular pancreas |
ORPHA:1203 |
Cataracts, Spastic Paraparesis, And Speech Delay |
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Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Spa... |
OMIM:619338 |
Alpha-Methylacetoacetic Aciduria |
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Dehydration |
OMIM:203750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Optic nerve hypoplasia, Retinal de... |
OMIM:615181 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
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Seizure, Recurrent hand flapping, EEG abnormality, Cerebral atrophy |
OMIM:617268 |
Galactosemia Iii |
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Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice |
OMIM:230350 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
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Edema, Dehydration |
OMIM:616069 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Seizure, Hyperactivity, Infantile spasms |
OMIM:619031 |
Huntington Disease-Like 3 |
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Dystonia, Caudate atrophy, Chorea, Abnormality of extrapyramidal motor function, Seizure, Frontal... |
OMIM:604802 |
Bare Lymphocyte Syndrome, Type I |
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Nasal polyposis, Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema |
OMIM:604571 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
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Abnormal cortical gyration, Athetosis, Generalized non-motor (absence) seizure, Bilateral tonic-c... |
ORPHA:79351 |
Chronic Hiccup |
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Dehydration |
ORPHA:396 |
Martinez-Frias Syndrome |
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Hypospadias, Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Intestinal malrotation, J... |
OMIM:601346 |
Tyrosinemia Type 1 |
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Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Diarrhea 4, Malabsorptive, Congenital |
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Dehydration |
OMIM:610370 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
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Seizure, Hyperactivity |
ORPHA:85288 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Gait imbalance, Myoclonus, Tongue thrusting, Seizure, Hyperactivity, Ataxia, Recurrent hand flapp... |
ORPHA:98794 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus |
OMIM:618858 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Testicular atrophy, Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Hyperglycemia, Sp... |
ORPHA:465508 |
Pearson Syndrome |
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Adrenal insufficiency, Lacticaciduria, Splenomegaly, Steatorrhea, Diabetes mellitus, Hydrops feta... |
ORPHA:699 |
Renal Hypoplasia |
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Urethral valve, Hydronephrosis, Abnormality of the ureter, Dehydration, Pelvic kidney, Glomerulom... |
ORPHA:93101 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1 |
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Cerebellar dysplasia, Retinal dystrophy, Facial palsy, Cerebellar hypoplasia |
OMIM:613155 |
Adrenal Hypoplasia, Congenital |
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Decreased circulating aldosterone level, Adrenal insufficiency, Primary adrenal insufficiency, Re... |
OMIM:300200 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
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Limb hypertonia, Bilateral tonic-clonic seizure, Seizure, Ataxia, Progressive microcephaly, Inabi... |
ORPHA:481152 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
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Babinski sign, Bilateral tonic-clonic seizure, Myoclonus, Seizure, Cerebellar vermis hypoplasia, ... |
ORPHA:364028 |
Mental Retardation, Autosomal Recessive 61 |
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Babinski sign, Hyperactivity, EEG abnormality, Spasticity, Secondary microcephaly, Hypoplasia of ... |
OMIM:617773 |
Richards-Rundle Syndrome |
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Ketonuria |
ORPHA:1399 |
Ck Syndrome |
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Abnormal cerebral cortex morphology, Seizure, Pachygyria, Hyperactivity, Polymicrogyria, Microcep... |
ORPHA:251383 |
Microvillus Inclusion Disease |
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Villous atrophy, Nephrocalcinosis, Abnormal renal physiology, Abnormality of small intestinal vil... |
ORPHA:2290 |
Lamb-Shaffer Syndrome |
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Stereotypy, Seizure, Hyperactivity, Ataxia, Upper motor neuron dysfunction, Microcephaly |
ORPHA:530983 |
Mental Retardation, Autosomal Recessive 41 |
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Seizure, Stereotypy |
OMIM:615637 |
Alpha-1-Antitrypsin Deficiency |
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Chronic bronchitis, Panacinar emphysema |
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