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 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Autism, Susceptibility To, X-Linked 4 |
|
Impulsivity, Attention deficit hyperactivity disorder, Motor tics |
OMIM:300830 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia, Cerebellar dysplasia |
OMIM:615041 |
Jeavons Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... |
ORPHA:139431 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Guanidinoacetate Methyltransferase Deficiency |
|
Chorea, Hyperactivity, Seizure, Abnormal head movements, Abnormality of extrapyramidal motor func... |
ORPHA:382 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized sp... |
OMIM:601068 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation, Focal-onset seizure, Hemiparesis, Generalized myoclonic seizure, Fo... |
ORPHA:101071 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Seizure, Hypsarrhythmia, Clonic seizure, Agitation, Tonic seizure, Bilateral tonic... |
OMIM:619970 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
EEG abnormality, Clumsiness, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Ce... |
OMIM:610003 |
Epilepsy, Progressive Myoclonic 7 |
|
Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Ataxia, Bilateral ton... |
OMIM:616187 |
Developmental And Epileptic Encephalopathy 43 |
|
Myoclonic seizure, Hyperactivity, Hypsarrhythmia, Ataxia, Bilateral tonic-clonic seizure, Atonic ... |
OMIM:617113 |
Epilepsy, Progressive Myoclonic, 9 |
|
Gait ataxia, Myoclonus, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic... |
OMIM:616540 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Myoclonic seizure, Hypsarrhythmia, Multifocal epileptiform discharges, Tonic seizure, Bilateral t... |
OMIM:619964 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Ketonuria, Neonatal... |
ORPHA:79644 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired vibration sensation in the lower limbs, Spastic ataxia, Seizure, Spastic gait, Spastic d... |
ORPHA:251282 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Developmental And Epileptic Encephalopathy 15 |
|
Myoclonic seizure, Inability to walk, Hypsarrhythmia, Focal clonic seizure, Tonic seizure, Bilate... |
OMIM:615006 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... |
OMIM:600512 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Optic disc pallor, Retinal thinning |
OMIM:618970 |
Developmental And Epileptic Encephalopathy 67 |
|
EEG abnormality, Hypsarrhythmia, Generalized myoclonic seizure, Recurrent hand flapping, Gait dis... |
OMIM:618141 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonic seizure, Seizure, Abnormal cerebellum morphology, Parkinsonism, Abnormality of extrapyr... |
OMIM:162350 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Seizure, EEG with polyspike wave complexes, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral... |
OMIM:615127 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure with focal onset, EEG with centrotemporal focal spike waves, Seizu... |
OMIM:245570 |
Landau-Kleffner Syndrome |
|
Generalized clonic seizure, Interictal EEG abnormality, EEG with temporal focal spikes, Focal imp... |
ORPHA:98818 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Focal-onset seizure, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, ... |
OMIM:613608 |
Continuous Spikes And Waves During Sleep |
|
EEG with centrotemporal focal spike waves, Typical absence seizure, Seizure, Focal motor seizure,... |
ORPHA:725 |
Lissencephaly 3 |
|
Generalized tonic seizure, Seizure, Spastic tetraplegia, Ataxia, Bilateral tonic-clonic seizure, ... |
OMIM:611603 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Jejunal atresia, Malabsorption, Achol... |
OMIM:615710 |
Pontocerebellar Hypoplasia, Type 14 |
|
Myoclonic seizure, Spastic tetraplegia, Cerebellar hypoplasia, Focal-onset seizure, Hypoplasia of... |
OMIM:619301 |
Pontocerebellar Hypoplasia, Type 15 |
|
Myoclonic seizure, Spastic tetraplegia, Cerebellar hypoplasia, Focal-onset seizure, Hydrocephalus... |
OMIM:619302 |
Epilepsy, Progressive Myoclonic, 8 |
|
Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Gait disturbance, Bilateral tonic... |
OMIM:616230 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Hyperactivity, Inability to walk, Rigidity, Generalized myoclonic seizure, Gait dist... |
OMIM:618090 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
EEG abnormality, Status epilepticus, Agitation, Bilateral tonic-clonic seizure, Involuntary movem... |
OMIM:617171 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Limb ataxia, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, Lower limb spast... |
OMIM:614322 |
Developmental And Epileptic Encephalopathy 98 |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with burst suppression,... |
OMIM:619605 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Hypsarrhythmia, Type I diabet... |
OMIM:618856 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Gait ataxia, Recurrent hand flapping, Hand tremor, Bilateral tonic-clonic seizure, Dysphagia, Cer... |
OMIM:617862 |
Huntington Disease-Like 1 |
|
Poor fine motor coordination, Gait ataxia, Chorea, Seizure, Abnormal head movements, EEG abnormal... |
ORPHA:157941 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Generalized tonic seizure, Falls, EEG abnormality, Focal-onset seizure, Myoclonus,... |
ORPHA:2382 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, EEG with polyspike wave complexes, Tr... |
OMIM:618587 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia |
ORPHA:22 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure with focal onset, Stereotypical hand wringing, Hypsarrhythmia, Bil... |
OMIM:616056 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Gait ataxia, Seizure, EEG abnormality, Generalized myoclonic seizure, Ataxia, ... |
OMIM:617831 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Focal aware seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-i... |
OMIM:614417 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
New-Onset Refractory Status Epilepticus |
|
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, EEG with frontal epileptiform... |
ORPHA:363558 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Gait ataxia, Gait imbalance, Seizure, Cerebellar hypoplasia, EEG with focal spikes, Abnormal late... |
ORPHA:488635 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Gilles De La Tourette Syndrome |
|
Phonic tics, Motor tics, Attention deficit hyperactivity disorder |
OMIM:137580 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Seizure, EEG abnormality, Truncal ataxia, Bilateral tonic-clonic seizure, Unsteady gait |
OMIM:608636 |
Transient Neonatal Diabetes Mellitus |
|
Abnormality of the urinary system, Transient neonatal diabetes mellitus, Hypothyroidism, Diabetic... |
ORPHA:99886 |
Developmental And Epileptic Encephalopathy 53 |
|
Myoclonic seizure, Seizure, Spastic tetraplegia, Hypsarrhythmia, Tonic seizure, Bilateral tonic-c... |
OMIM:617389 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, EEG abnor... |
OMIM:617643 |
Epilepsy, Pyridoxine-Dependent |
|
EEG with burst suppression, Generalized myoclonic seizure, Hydrocephalus, Status epilepticus, Clo... |
OMIM:266100 |
Developmental And Epileptic Encephalopathy 59 |
|
Inability to walk, Hypsarrhythmia, Multifocal epileptiform discharges, Focal clonic seizure, Atax... |
OMIM:617904 |
Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Emphysema |
OMIM:130700 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism |
OMIM:615493 |
Chudley-Mccullough Syndrome |
|
Cerebellar dysplasia, Seizure, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of the corp... |
OMIM:604213 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism |
ORPHA:356996 |
Episodic Ataxia, Type 9 |
|
Seizure, Status epilepticus, Clonic seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clon... |
OMIM:618924 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Seizure, Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonu... |
OMIM:615362 |
Developmental And Epileptic Encephalopathy 12 |
|
Spasticity, Focal-onset seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure, E... |
OMIM:613722 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... |
ORPHA:306 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Myoclonic seizure, Gait ataxia, Spasticity, EEG abnormality, Cerebellar hypoplasia, Inability to ... |
OMIM:617810 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Lower limb spasticity, ... |
OMIM:619639 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... |
ORPHA:101046 |
Developmental And Epileptic Encephalopathy 9 |
|
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... |
OMIM:300088 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Poor fine motor coordination, Gene... |
ORPHA:36387 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Renal steatosis, Impaired gluconeogenesis, Increased hepatic echogenicity, Ketonuria, Hepatic ste... |
OMIM:261680 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure with visual features, Myoclonus, Interictal epileptiform activity, Bilatera... |
OMIM:615400 |
Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Myoclonic status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, ... |
OMIM:614018 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... |
OMIM:607682 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Truncal ataxia, Generalized m... |
OMIM:611726 |
Enteric Anendocrinosis |
|
Malabsorption, Type I diabetes mellitus, Cholestatic liver disease, Dehydration, Portal hypertension |
ORPHA:83620 |
Bilateral Generalized Polymicrogyria |
|
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... |
ORPHA:208447 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
Dravet Syndrome |
|
Myoclonic seizure, Generalized clonic seizure, Abnormal pyramidal sign, Focal aware seizure, Gene... |
OMIM:607208 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes |
OMIM:611364 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cell... |
ORPHA:99885 |
Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... |
ORPHA:101039 |
Familial Focal Epilepsy With Variable Foci |
|
Paresthesia, Focal-onset seizure, Deja vu aura, Focal aware seizure, Interictal EEG abnormality, ... |
ORPHA:98820 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Ketonuria, Glycosuria, Abnormality of the gastrointestinal tract, Postprand... |
ORPHA:2089 |
Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Mul... |
OMIM:615369 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Seizure, EEG abnormality |
ORPHA:436151 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Gastroesophageal reflux, Methylmalonic aciduria, Ketonuria, Dehydration |
OMIM:251120 |
Developmental And Epileptic Encephalopathy 27 |
|
Myoclonic seizure, Chorea, Spasticity, Seizure, Hypsarrhythmia, Myoclonus, Bilateral tonic-clonic... |
OMIM:616139 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Generalized-onset seizure, Seizure, Hemiparesis, Hypoesthesia, Tremor, Hypertonia, Hyperglycemia,... |
OMIM:619737 |
Developmental And Epileptic Encephalopathy 47 |
|
EEG abnormality, Inability to walk, Focal-onset seizure, Hypsarrhythmia, Multifocal epileptiform ... |
OMIM:617166 |
Developmental And Epileptic Encephalopathy 37 |
|
Chorea, Spasticity, Hyperkinetic movements, Rigidity, Myoclonus, Choreoathetosis, Gait disturbanc... |
OMIM:616981 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Episodic Ataxia, Type 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a... |
OMIM:613855 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
High palate, Ketonuria, Oligohydramnios, Hepatomegaly, Renal hypoplasia |
OMIM:619053 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure with focal onset, Spastic tetraplegia, Status epilepticus, Bilater... |
OMIM:613721 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Villous atrophy, Dehydration |
OMIM:251850 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Gait imbalance, Seizure, Generalized myoclonic seizure, Myoclonus, Choreoathetosis, Ataxia, Bilat... |
OMIM:301020 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Myoclonus, Interictal epileptiform activity, Ataxia, Bilateral... |
OMIM:254800 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Generalized-onset seizure, Hyperactivity, Spasticity, Seizure, Inability to walk, Ankle clonus, S... |
OMIM:616657 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Seizure, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Imp... |
OMIM:300423 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, 3-hydroxyisovaleric aciduria, Hypoglycemia, Elevated urinary 3-methylcrotonylglycine l... |
OMIM:210200 |
Myoclonic Epilepsy, Familial Infantile |
|
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Seizure, Focal-onset ... |
OMIM:605021 |
Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Typical absence seizure, Seizure, Hypsarrhythmia, Incoordination, Bilateral to... |
OMIM:616409 |
Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Poor hand-eye coordination, Genera... |
ORPHA:86909 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Hepatic cysts, Multiple small medullary renal cysts, Periport... |
OMIM:263200 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E... |
ORPHA:552 |
Developmental And Epileptic Encephalopathy 24 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... |
OMIM:615871 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, EEG with generalized epileptiform discharges, Se... |
ORPHA:163721 |
Developmental And Epileptic Encephalopathy 42 |
|
Myoclonic seizure, EEG abnormality, Focal tonic seizure, Ataxia, Tonic seizure, Bilateral tonic-c... |
OMIM:617106 |
Developmental And Epileptic Encephalopathy 54 |
|
Seizure, EEG abnormality, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic s... |
OMIM:617391 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic seizure, Chorea, EEG with spike-wave complexes (>3.5 Hz), Inability to walk, Focal-onse... |
OMIM:619317 |
Progressive Myoclonic Epilepsy Type 3 |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, My... |
ORPHA:263516 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
EEG abnormality, Rigidity, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure,... |
OMIM:617836 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal motor seizure, Myoclonus, Hand tremor, Bilateral tonic-clonic seizure, Focal hemifacial clo... |
OMIM:608105 |
Fraxe Intellectual Disability |
|
Hyperactivity, Recurrent hand flapping, Agitation, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
Epilepsy, Progressive Myoclonic, 12 |
|
Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Attention deficit hyperactivity dis... |
OMIM:619191 |
Perioral Myoclonia With Absences |
|
Chin myoclonus, Focal seizure with eyelid myoclonia, Falls, Generalized myoclonic seizure, Bilate... |
ORPHA:139426 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Myoclonic seizure, Seizure, Focal-onset seizure, Interictal epileptiform activity, Bilateral toni... |
OMIM:619157 |
Foxg1 Syndrome |
|
Spasticity, Inability to walk, Stereotypical hand wringing, Focal-onset seizure, Myoclonus, Bruxi... |
ORPHA:561854 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Spasticity, Inability to walk, Hypsarrhythmia, Generalized myoclonic-atonic seizure, Status epile... |
OMIM:619701 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Seizure, EEG abnormality, Hyperkinetic movements, Generalized myoclonic seizure, S... |
OMIM:271980 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus ... |
OMIM:204300 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Myoclonic seizure, Seizure, Inability to walk, Stereotypical hand wringing, Myoclonus, Choreoathe... |
OMIM:618497 |
Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure, EEG abnormality |
OMIM:614115 |
Developmental And Epileptic Encephalopathy 109 |
|
Myoclonic seizure, Gait ataxia, Hyperactivity, Spasticity, Typical absence seizure, Crouch gait, ... |
OMIM:620145 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spasticity, EEG abnormality, Cerebellar hypoplasia, Dysdiadochokinesis, Oculomotor apraxia, Gener... |
ORPHA:313772 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Unilateral Focal Polymicrogyria |
|
Bilateral tonic-clonic seizure with focal onset, EEG with central focal spikes, Poor fine motor c... |
ORPHA:268947 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, EEG with series of focal spikes, Inability to walk, Focal-onset seizure, Atoni... |
ORPHA:168491 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urine acetoacetic acid level, Ketonuria, Elevated urinary 3-hydroxybutyric acid, Jaundic... |
OMIM:615751 |
Developmental And Epileptic Encephalopathy 103 |
|
Myoclonic seizure, Hyperactivity, Continuous spike and waves during slow sleep, EEG with polyspik... |
OMIM:619913 |
Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Choreoathetosis, Tonic seizure, Bilateral tonic-cloni... |
OMIM:618396 |
Isolated Focal Cortical Dysplasia |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Seizure, Focal-onset ... |
ORPHA:65683 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Agenesis o... |
ORPHA:250972 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia, Ketonuria |
OMIM:618857 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Involuntary movements, Rigi... |
ORPHA:240103 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Seizure, Inability to walk, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticu... |
ORPHA:330050 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... |
OMIM:254770 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Spasticity, Chorea, I... |
OMIM:618917 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Recurrent hand flapping, Agitation, Impulsivity, Stereotypical body rocking |
OMIM:309548 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal aware sensory seizure with a... |
OMIM:616461 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Hyperactivity, Seizure, Ataxia |
OMIM:613402 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:608762 |
Kohlschutter-Tonz Syndrome |
|
Myoclonic seizure, Spasticity, Seizure, Cerebellar hypoplasia, Focal-onset seizure, Hypsarrhythmi... |
OMIM:226750 |
Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Inability to walk, Focal-onset seizure, Interictal epileptiform act... |
ORPHA:1929 |
Developmental And Epileptic Encephalopathy 13 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:614558 |
Developmental And Epileptic Encephalopathy 91 |
|
Myoclonic seizure, Spasticity, Seizure, Focal motor seizure, Hypsarrhythmia, Multifocal epileptif... |
OMIM:617711 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure, Ataxia |
OMIM:617709 |
Cln5 Disease |
|
Inability to walk, Focal-onset seizure, Truncal ataxia, Unsteady gait, EEG with generalized slow ... |
ORPHA:228360 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Focal impaired a... |
OMIM:607745 |
Developmental And Epileptic Encephalopathy 56 |
|
Myoclonic seizure, Seizure, Focal motor seizure, EEG abnormality, EEG with polyspike wave complex... |
OMIM:617665 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, Dysmetr... |
OMIM:618093 |
Glycine Encephalopathy |
|
Hyperactivity, Seizure, Myoclonus, Impulsivity, Restlessness, Agenesis of corpus callosum |
OMIM:605899 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly |
OMIM:608600 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Ketotic hypoglycemia, Dehydration |
ORPHA:79159 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Hyperkinetic movements |
OMIM:618425 |
Developmental And Epileptic Encephalopathy 99 |
|
Eyelid myoclonus, Focal-onset seizure, Multifocal epileptiform discharges, Status epilepticus, Fo... |
OMIM:619606 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Edema, Hypoglycemia, Hepatomegaly, Dehydration, Hyperglycemia |
ORPHA:134 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Chorea, Spasticity, Hyperkinetic movements, Involuntary movements, Multifocal epileptiform discha... |
OMIM:617493 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, Generalized myoclonic seizure... |
OMIM:614487 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Chorea, Hyperactivity, Seizure, EEG with focal spikes, Myoclonus, Focal tonic seizure, Upper limb... |
ORPHA:485350 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Chorea, Seizure, EEG abnormality, Falls, Focal-onset seizure, Poor coordination, Focal motor stat... |
OMIM:619150 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hypoglycemia, Cryptorchidism, Hepatomegaly, Dysphagia, Dehydration |
OMIM:618958 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Nonketotic hypoglycemia, Jaundice, Edema, Acute pancreatitis, Recurrent hypoglycemia, ... |
ORPHA:20 |
Developmental And Epileptic Encephalopathy 63 |
|
Myoclonic seizure, Generalized-onset seizure, Generalized tonic seizure, Seizure, EEG with genera... |
OMIM:617976 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Generalized-onset seizure, Hyperactivity, Seizure, EEG abnormality, Hemiparesis, Spastic tetrapar... |
OMIM:604317 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Hypsarrhythmia, Generalized myoclonic seizure, Seizure |
OMIM:616341 |
Developmental And Epileptic Encephalopathy 52 |
|
Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Abnormal pyramidal sig... |
OMIM:617350 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young |
OMIM:609812 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Abnormal pyramidal sign, Seizure, Inability to w... |
OMIM:616645 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Torticollis, Abnormal repetitive mannerisms, Action tremor, Involuntary movement... |
ORPHA:98807 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia, Ketonuria |
OMIM:616095 |
Centralopathic Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Focal-onset seizure, EEG wit... |
OMIM:117100 |
Familial Infantile Myoclonic Epilepsy |
|
Limb myoclonus, Blepharospasm, Seizure, Focal-onset seizure, Clumsiness, Generalized myoclonic se... |
ORPHA:352582 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Spasticity, Seizure, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Focal impaired aware... |
ORPHA:208441 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Ketonuria, Hypoglycemia, Dehydration |
OMIM:615453 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Generalized-onset seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic-cloni... |
ORPHA:79137 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Myoclonic seizure, Seizure, Lateral ventricle dilatation, Inability to walk, Bilateral tonic-clon... |
OMIM:615716 |
Cystinosis |
|
Aminoaciduria, Hypothyroidism, Renal insufficiency, Malabsorption, Type I diabetes mellitus, Neph... |
ORPHA:213 |
Microphthalmia-Brain Atrophy Syndrome |
|
Generalized-onset seizure, Cerebellar vermis atrophy, Spasticity, Lateral ventricle dilatation, G... |
ORPHA:77299 |
Glutaric Acidemia I |
|
Hypoglycemia, Glutaric aciduria, Hepatomegaly, Ketonuria |
OMIM:231670 |
Lissencephaly 10 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... |
OMIM:618873 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Gait ataxia, Spasticity, Seizure, EEG abnormality, Cerebellar hypoplasia, Oculomotor apraxia, Sta... |
ORPHA:529665 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:614499 |
Huntington Disease-Like 3 |
|
Chorea, Spasticity, Abnormal pyramidal sign, Extrapyramidal dyskinesia, Seizure, Abnormal head mo... |
ORPHA:157946 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Enterocolitis, Villous atrophy, Small intestinal dysmotility, Malabsorpti... |
ORPHA:95427 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic seizure, Increased theta frequency activity in EEG, EEG with polyspike wave complexes, ... |
OMIM:619000 |
Dibasic Amino Aciduria I |
|
Hyperlysinuria, Malabsorption, Ornithinuria, Dibasicaminoaciduria, Argininuria |
OMIM:222690 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic hemiplegia, Bilateral tonic-clonic seizure, Choreoathetosis, Episodic quadriplegia |
OMIM:104290 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Seizure, EEG abnormality, Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:612621 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Gliosis, Degeneration of anterior horn cells |
OMIM:604484 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Hepatomegaly, Dehydration |
ORPHA:28 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Chorea, EEG abnormality, Stereotypical hand wringing, Focal-onset seizure, Inability to walk, Con... |
OMIM:618760 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Behavioral Variant Of Frontotemporal Dementia |
|
Abnormality of extrapyramidal motor function, Gait disturbance, Upper motor neuron dysfunction, A... |
ORPHA:275864 |
Developmental And Epileptic Encephalopathy 23 |
|
Hypsarrhythmia, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Hypoplasia of the pons,... |
OMIM:615859 |
Methylmalonic Aciduria, Cblb Type |
|
Ketonuria, Methylmalonic aciduria, Hepatomegaly, Dehydration |
OMIM:251110 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Cerebral edema, Ketonuria, Increased urine alpha-ketoglutarate co... |
OMIM:619355 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Hypoglycemia, Hepatomegaly, Dehydra... |
OMIM:251000 |
Seizures, Benign Familial Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:121201 |
Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with spike-wave complexes (>3.... |
OMIM:600669 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Neonatal death, Hepatomegaly, Lacticaciduria |
OMIM:619167 |
Fragile X Syndrome |
|
Hyperactivity, Recurrent hand flapping, Seizure, Abnormal head movements |
OMIM:300624 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Seizure, Lateral ventricle dilatation, Inability to walk, EEG with focal spikes, Cerebellar cyst,... |
ORPHA:79243 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Dehydration, Renal insufficiency, Pancreatitis |
ORPHA:79312 |
Glucose/Galactose Malabsorption |
|
Glycosuria, Abnormal oral glucose tolerance, Malabsorption, Hypertonic dehydration |
OMIM:606824 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Seizure, Abnormal cerebellum morphology, Parkinsonism, Abnormality of extrapyramidal motor functi... |
OMIM:204200 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Hydrocephalus, Seizure, Agenesis of corpus callosum |
OMIM:175700 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Myoclonic seizure, Chorea, Hyperactivity, Cerebral palsy, Myoclonus, Recurrent hand flapping, Neo... |
OMIM:617600 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis |
OMIM:300455 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal pyramidal sign, Abnormal head movements, Truncal ataxia, Type II diabetes mellitus, Ocul... |
ORPHA:247815 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hypothyroidism, 3-Methylglutaconic aciduria, Ketonuria, Macroglossia, Hepatomegaly, Myoglobinuria |
OMIM:251900 |
Methylmalonic Aciduria, Cbla Type |
|
Ketonuria, Methylmalonic aciduria, Hepatomegaly, Dehydration |
OMIM:251100 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Childhood Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... |
ORPHA:64280 |
Salt And Pepper Developmental Regression Syndrome |
|
Myoclonus, Choreoathetosis, Status epilepticus, Multifocal epileptiform discharges, Bilateral ton... |
OMIM:609056 |
Hartnup Disorder |
|
Hyperactivity, Generalized tonic seizure, Seizure, Episodic ataxia, Attention deficit hyperactivi... |
OMIM:234500 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Myoclonic seizure, EEG with burst suppression, Myoclonus, Clonic seizure, Tonic seizure, Bilatera... |
OMIM:617290 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... |
OMIM:618357 |
Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, EEG wit... |
ORPHA:1941 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Focal-onset seizure, Clonic seizure, Simple febrile seizure, Bilateral tonic-clonic seizure, Foca... |
OMIM:617935 |
Peho-Like Syndrome |
|
Hypsarrhythmia, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure, Cerebellar atrophy |
OMIM:617507 |
Hyperprolinemia, Type I |
|
Hyperactivity, Seizure, EEG abnormality, Status epilepticus, Ataxia |
OMIM:239500 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Seizure, Hypertonia, Tetraplegia, Agenesis of corpus callosum |
OMIM:274270 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Postural tremor, Gait disturbance, Babinski sign, Spastic paraplegia, Bilateral tonic-clonic seiz... |
ORPHA:100988 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal impaired awareness seizure |
OMIM:611630 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Combined Malonic And Methylmalonic Acidemia |
|
Methylmalonic aciduria, Hypoglycemia, Dicarboxylic aciduria, Dehydration |
ORPHA:289504 |
X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Apraxia, Gait disturbance, Babinski sign, Bilateral tonic-clonic seizure, Aton... |
ORPHA:93952 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Rigidity, Myoclonus, Para... |
OMIM:612736 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Stereot... |
ORPHA:289266 |
Bardet-Biedl Syndrome 9 |
|
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:615986 |
Polymicrogyria, Bilateral Temporooccipital |
|
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Focal impaired awareness sei... |
OMIM:612691 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Status epilepticus, Appendicular spasticity |
OMIM:617082 |
Juvenile Huntington Disease |
|
Gait ataxia, Chorea, Hyperactivity, Cerebellar vermis atrophy, Seizure, Rigidity, Myoclonus, Atax... |
ORPHA:248111 |
Combined Malonic And Methylmalonic Aciduria |
|
Methylmalonic aciduria, Dehydration |
OMIM:614265 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Steatorrhea, Intestinal ... |
OMIM:615237 |
Propionic Acidemia |
|
Hypoglycemia, Increased level of hippuric acid in urine, Hepatomegaly, Dehydration, Pancreatitis,... |
OMIM:606054 |
Pearson Marrow-Pancreas Syndrome |
|
Hydrops fetalis, Villous atrophy, Malabsorption, Type I diabetes mellitus, Steatorrhea, Pancreati... |
OMIM:557000 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... |
OMIM:604403 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Myoclonus, Ataxia, Jerk-locked premyoclonus spikes, EEG with irregular generalized... |
OMIM:607876 |
Benign Paroxysmal Torticollis Of Infancy |
|
Ataxia, Torticollis, Abnormal head movements |
ORPHA:71518 |
Alpers-Huttenlocher Syndrome |
|
Spasticity, Progressive spasticity, Focal-onset seizure, Myoclonus, Choreoathetosis, Paraparesis,... |
ORPHA:726 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Retinal a... |
ORPHA:370022 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Bilat... |
ORPHA:53583 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Retinal thinning, Retinal atrophy, Cerebellar cys... |
OMIM:615960 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Cerebellar vermis atrophy, Seizure, Tongue fasciculations, Ataxia, Babinski sign, Bilateral tonic... |
OMIM:618170 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Pancreatitis, Hepatomegaly, Dehydration |
ORPHA:27 |
Carnitine Deficiency, Systemic Primary |
|
Microvesicular hepatic steatosis, Impaired gluconeogenesis, Dicarboxylic aciduria, Decreased carn... |
OMIM:212140 |
Seizures, Benign Familial Infantile, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... |
OMIM:601764 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Myoclonic seizure, Chorea, Spasticity, Seizure, EEG abnormality, Stereotypical hand wringing, Ina... |
OMIM:614254 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Typical absence seizure, Seizure, Inability to walk, Eyelid myoclonus, Clumsiness... |
ORPHA:2590 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Alpha-aminoadipic aciduria, Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, H... |
OMIM:620089 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
Developmental And Epileptic Encephalopathy 41 |
|
Myoclonic seizure, Spasticity, Generalized tonic seizure, EEG abnormality, Inability to walk, Hyp... |
OMIM:617105 |
Rolandic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
ORPHA:1945 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Impaired tandem gait, Impulsivity, Dysmetria, Tremor, Lower limb spasticity, C... |
OMIM:619028 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar dysplasia, Typical absence seizure, Abnormal cerebellum morphology, Seizure, Abnormal ... |
ORPHA:101070 |
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 |
Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Cerebellar vermis atrophy, Bradykinesia, Seizure, Ankle clonus, Abnormal pyramidal si... |
OMIM:617435 |
Pontocerebellar Hypoplasia Type 2 |
|
Spasticity, Hypoplasia of the ventral pons, Seizure, Cerebellar hypoplasia, Impaired oropharyngea... |
ORPHA:2524 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... |
OMIM:607681 |
Fanconi-Bickel Syndrome |
|
Abnormal hepatic glycogen storage, Renal tubular acidosis, Impaired glucose tolerance, Glycosuria... |
ORPHA:2088 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Chorea, Resting tremor, Parkinsonism, Myoclonus, Motor tics, Ataxia, Bilateral tonic-clonic seizu... |
OMIM:619725 |
Oxoglutarate Dehydrogenase Deficiency |
|
Gait ataxia, Falls, Rigidity, Bilateral tonic-clonic seizure, Dysmetria, Unsteady gait |
OMIM:203740 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic-clonic se... |
OMIM:607631 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Seizure, Hyperactivity |
OMIM:609924 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Cirrhosis, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, He... |
OMIM:604367 |
Severe Canavan Disease |
|
Spasticity, Seizure, Inability to walk, Babinski sign, Bilateral tonic-clonic seizure, Decerebrat... |
ORPHA:314911 |
Congenital Tufting Enteropathy |
|
Elevated fecal osmolality, Villous atrophy, Abnormal large intestinal mucosa morphology, Abnormal... |
ORPHA:92050 |
Donohue Syndrome |
|
Hyperinsulinemia, Hepatic fibrosis, Long penis, Postprandial hyperglycemia, Cholestasis, Pancreat... |
OMIM:246200 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Glycosuria, Insulin resistance, Nephropathy, Dehydration, Hyp... |
ORPHA:69076 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Spasticity, Focal-onset seizure, Bilateral tonic-clonic seizure, Partia... |
ORPHA:171680 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Chorea, Spasticity, Seizure, EEG abnormality, Status epilepticus, Bilateral tonic-clonic seizure,... |
OMIM:613970 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:139406 |
Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Recurrent pneumonia, Recurrent lower respiratory tract infe... |
OMIM:616726 |
Sulfite Oxidase Deficiency, Isolated |
|
Cerebellar hypoplasia, Multifocal epileptiform discharges, Choreoathetosis, Agitation, Hemiplegia... |
OMIM:272300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Seizure, Impulsivit... |
OMIM:301008 |
Chylous Ascites |
|
Ascites, Abnormal intestine morphology, Pancreatitis, Lymphedema |
ORPHA:1160 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Atelectasis, Bronchiectasis |
OMIM:615294 |
Infantile Cerebellar-Retinal Degeneration |
|
Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Cerebellar atrophy, Athetosis |
OMIM:614559 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:616172 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Myoclonic seizure, Seizure, Lateral ventricle dilatation, Hypsarrhythmia, Tonic seizure, Bilatera... |
OMIM:600721 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Neonatal death, Spastic tetraplegia |
OMIM:618237 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Spastic diplegia, Myoclonus, Ataxia, Babinski sign, Bilateral tonic-clonic seizure |
OMIM:619065 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Generalized aminoaciduria, Abnormal intestine morphology, Hypoglycemia, Renal t... |
OMIM:606528 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Seizure, Parkinsonism, Myoclonic spasms, Clumsiness, Interictal EEG... |
ORPHA:79264 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis, Abnormal respiratory m... |
ORPHA:922 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Hyperactivity, Seizure, Myoclonus, Ataxia, Tremor, Tetraparesis |
OMIM:615924 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Myoclonic seizure, Spasticity, Seizure, Spastic tetraplegia, Focal-onset seizure, Spastic hemipar... |
OMIM:619616 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Generalized-onset seizure, Hyperactivity, Seizure, EEG with generalized epileptiform discharges, ... |
OMIM:619827 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Recurrent respiratory infections, Atelectasis |
OMIM:619466 |
Developmental And Epileptic Encephalopathy 90 |
|
Ankle clonus, Limb hypertonia, Focal-onset seizure, Hypsarrhythmia, EEG with burst suppression, B... |
OMIM:301058 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Infantile spasms, Bilateral tonic-clonic seizure, Broad-based gait, Inability to walk |
OMIM:618470 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hemolytic-uremic syndrome, Glomerulopathy, Hydrops fetalis, Methylmalonic aciduria, Ketonuria, Ja... |
ORPHA:79282 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Seizure, Clumsiness, Hydrocephalus, Agitation, Bilateral tonic-clonic seizure, Res... |
OMIM:300558 |
Developmental And Epileptic Encephalopathy 4 |
|
Generalized tonic seizure, Spastic tetraplegia, EEG with burst suppression, Hypsarrhythmia, Gener... |
OMIM:612164 |
Developmental And Epileptic Encephalopathy 66 |
|
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized tonic seizure, Se... |
OMIM:618067 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Gait imbalance, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, EEG with focal epilepti... |
ORPHA:98795 |
Cdkl5-Deficiency Disorder |
|
Generalized tonic seizure, Stereotypical hand wringing, Focal-onset seizure, Multifocal epileptif... |
ORPHA:505652 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
EEG with spike-wave complexes (>3.5 Hz), Seizure, Paroxysmal dyskinesia, Generalized non-motor (a... |
OMIM:609446 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Ileoileal intussusception, Microvesicular hepatic steatosis, Grade II vesicoure... |
OMIM:619377 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Generalized tonic seizure, Inability to walk, Hypsarrhythmia, Myoclonus, Multifocal epileptiform ... |
ORPHA:411986 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, EEG with occipital epileptiform discharges, Seiz... |
OMIM:619428 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Progressive spastic paraplegia, Spasticity, Seizure, Spastic dysarthria, Abnormal repetitive mann... |
ORPHA:280763 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, High palate, Ketonuria |
OMIM:614520 |
Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Ketonuria |
ORPHA:35706 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Macronodular adrenal hyperplasia, Increased circulating cortisol level, Increased ... |
OMIM:615954 |
Wolcott-Rallison Syndrome |
|
Central hypothyroidism, Hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Abnormality... |
ORPHA:1667 |
Episodic Ataxia Type 4 |
|
Ataxia, Incoordination, Abnormal head movements, Frequent falls |
ORPHA:79136 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Absen... |
OMIM:615067 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Adrenal insufficiency, Lacticaciduria, Hepatic steatosis, Hypoglycemia, Renal insu... |
OMIM:619386 |
Atypical Rett Syndrome |
|
Gait ataxia, Limb myoclonus, Spasticity, Seizure, EEG abnormality, Stereotypical hand wringing, I... |
ORPHA:3095 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:616685 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Seizure, Hydrocephalus, Spastic tetraparesis, Tremor, Broad-based gait |
OMIM:619470 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Increased theta frequency activity in EEG, EEG with focal spikes, Focal hyperkinetic seizure, Int... |
ORPHA:98784 |
Reticular Dysgenesis |
|
Malabsorption, Dehydration |
ORPHA:33355 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Intrahepatic biliary atresia, Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Chole... |
OMIM:208085 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Protein-losing enteropathy, Hematochezia, Dehydration |
ORPHA:103910 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609253 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Myoclonic seizure, Gait ataxia, Inability to walk, Limb hypertonia, Recurrent hand flapping, Chor... |
OMIM:619580 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Ketonuria, Compensated hypothyroidism, Hypoglycemic seizures, Hypoglycemia, Gastrointestinal dysm... |
ORPHA:480864 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Focal motor seizure, Seizure, Akinesia, Postural tremor, Resting tremor, Clumsiness, Parkinsonism... |
OMIM:619911 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Type I diabetes mellitus, Polyuria, Hepatomegaly, Dehydration |
OMIM:560000 |
Vipoma |
|
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... |
ORPHA:97282 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Alaninuria, Hepatomegaly |
OMIM:615158 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... |
OMIM:613863 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Progressive spastic paraplegia, Spasticity, Fasciculations, Seizure, Generalized myoclonic seizur... |
ORPHA:464282 |
Developmental And Epileptic Encephalopathy 106 |
|
Limb hypertonia, Cerebellar hypoplasia, Focal clonic seizure, Tonic seizure, Bilateral tonic-clon... |
OMIM:620028 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Diabetes mellitus, Bilateral tonic-clonic seizure, Lateral ventricle dilatation |
OMIM:619278 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Anuria, Intussusception, Acute kidney injury, Peritonitis, Hemoglobinuria... |
ORPHA:90038 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Bilateral tonic-clonic seizure, Complex febrile seizure, Status epilepticus without prominent mot... |
ORPHA:363549 |
Cln3 Disease |
|
Myoclonic seizure, Seizure, Shuffling gait, Focal-onset seizure, Ataxia, Bilateral tonic-clonic s... |
ORPHA:228346 |
Autism, Susceptibility To, 3 |
|
Ketonuria |
OMIM:608049 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Bilateral tonic-clonic seizure, Atonic seizure, Seizure |
OMIM:309530 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Gait ataxia, Chorea, Hyperactivity, Spasticity, Abnormal pyramidal sign, Seizure, EEG abnormality... |
ORPHA:500180 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypothyroidism, Ketonuria, Hypoglycemia, Myoglobinuria, Oral-pharyngeal dysphagia |
OMIM:616878 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Pyruvate Carboxylase Deficiency |
|
Generalized clonic seizure, Abnormal pyramidal sign, Tip-toe gait, Seizure, Recurrent hand flappi... |
ORPHA:3008 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Abnormal pyramidal sign, EEG with polyspike wave complexes, Focal-onset seizure, G... |
ORPHA:1942 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Organic aciduria, Hypoglycemia, Hyperglycinuria, Ketonuria |
OMIM:210210 |
Scorpion Envenomation |
|
Hyperhidrosis, Pulmonary edema, Ketonuria, Glycosuria, Acute kidney injury, Edema, Acute pancreat... |
ORPHA:466677 |
Autosomal Agammaglobulinemia |
|
Hepatitis, Malabsorption, High palate, Dehydration |
ORPHA:33110 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Biliary cirrhosis, Fasting hypoglycemia, Enlarged polycystic ovaries, Enlarged ... |
ORPHA:2298 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes |
OMIM:610582 |
Duodenal Atresia |
|
Polyhydramnios, Abnormality of the pancreas, Duodenal atresia, Annular pancreas |
ORPHA:1203 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Developmental And Epileptic Encephalopathy 61 |
|
Bilateral tonic-clonic seizure with focal onset, Spasticity, Seizure, Focal clonic seizure, Loss ... |
OMIM:617933 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... |
OMIM:613060 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Hypoglycemia, Aminoaciduria, Splenomegaly |
ORPHA:664 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure, Hyperactivity |
OMIM:301076 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar cyst, Optic nerve hypoplasia, Hypoplasia ... |
OMIM:615181 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal aware seizure, Bilateral ton... |
OMIM:608096 |
Birt-Hogg-Dubé Syndrome |
|
Pulmonary sequestration, Pneumothorax, Parathyroid adenoma, Emphysema |
ORPHA:122 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure with focal onset, Hyperactivity, Cerebellar vermis atrophy, Seizur... |
ORPHA:163681 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Seizure, Stereotypical hand wringing, Bilateral tonic-clonic seizure, Focal impaired awareness se... |
OMIM:619854 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Extrahepatic biliary duct ... |
OMIM:601346 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604233 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Myoclonic seizure, Cerebellar hemisphere hypoplasia, Spasticity, Seizure, Involuntary movements, ... |
OMIM:618325 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cerebellar dysplasia, Seizure, Upper limb spasticity, Gait disturbance, Abnormal repetitive manne... |
ORPHA:457240 |
Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure with focal onset, Focal emotional seizure with laughing, Inability... |
OMIM:619881 |
Brain Small Vessel Disease 2 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraplegia, Hemiplegia |
OMIM:614483 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Inability to walk, EEG abnormality, Bilateral tonic-clonic seizure, Decreased nerve conduction ve... |
ORPHA:457205 |
Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Spasticity, Seizure, Cerebral palsy, Repetitive compulsive behavior, Abnormal repe... |
ORPHA:352490 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Hyperactivity, Seizure, Ataxia, Tremor |
OMIM:300983 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu... |
OMIM:620115 |
Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Lacticaciduria, Hepatic steatosis, Hypoparathyroidism, Hep... |
ORPHA:699 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating aldosterone level, Adrenal insufficiency, Decreased circulating cortisol le... |
OMIM:300200 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clumsiness |
ORPHA:158 |
Ritscher-Schinzel Syndrome 4 |
|
Chorea, Cerebellar hypoplasia, Focal-onset seizure, Agenesis of corpus callosum, Ataxia, Bilatera... |
OMIM:619435 |
D-Glyceric Aciduria |
|
Spasticity, Seizure, Spastic tetraplegia, Hypsarrhythmia, Myoclonus, Focal clonic seizure, Status... |
OMIM:220120 |
Hypercalcemia, Infantile, 1 |
|
Medullary nephrocalcinosis, Polyuria, Dehydration, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria |
OMIM:143880 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Spasticity, Seizure, Inability to walk, EEG abnormality, Tremor, Bruxism |
OMIM:618718 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
Richards-Rundle Syndrome |
|
Ketonuria |
ORPHA:1399 |
Migraine, Familial Hemiplegic, 2 |
|
Gait ataxia, Focal motor seizure, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Bilateral to... |
OMIM:602481 |
Pitt-Hopkins-Like Syndrome 1 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Hyperactivity, Spasti... |
OMIM:610042 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Cholangiocarcinoma, Hepatocellular carcinoma, Diabetes mellitus, Testi... |
ORPHA:465508 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Spasticity, Hyperactivity, Seizure, Agenesis of corpus callosum |
OMIM:615286 |
Galactosemia Iii |
|
Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Cystic Fibrosis |
|
Meconium ileus, Biliary cirrhosis, Cirrhosis, Steatorrhea, Hepatosplenomegaly, Hepatomegaly, Dehy... |
OMIM:219700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Seizure, Bruxism |
OMIM:300434 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormality of small intestinal villus morphology, Abnormal renal physiology, De... |
ORPHA:2290 |
Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Recurrent bronchitis, Nasal polyposis, Emphysema, Bronchiolitis |
OMIM:604571 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Somatic sensory dysfunction, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Hemiparesis, Ps... |
ORPHA:199354 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Cryptorchidism, Dehydration |
OMIM:214150 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Spasticity, Seizure, Interictal EEG abnormality, Bilateral tonic-clonic seizure, EEG with focal e... |
ORPHA:544503 |
Christianson Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Gait ataxia, Generalized-onset seizure, Truncal ataxia, Abn... |
ORPHA:85278 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen... |
OMIM:617924 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Diabetes mellitus, Hypoglycemia, Pancreatic aplasia, Hyperglycemia |
OMIM:609069 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
ORPHA:675 |
Propionic Acidemia |
|
Organic aciduria, Hypoglycemia, Hepatomegaly |
ORPHA:35 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Myoclonic seizure, Inability to walk, Hypsarrhythmia, Bilateral tonic-clonic seizure, Hypertonia,... |
OMIM:619877 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Hepatitis, Abnormal renal tubule morphology, Steatorrhea, Postprandial hyper... |
ORPHA:440713 |
Hyperlysinemia, Type I |
|
Hyperactivity, Seizure |
OMIM:238700 |
Pancreatitis, Hereditary |
|
Pancreatic pseudocyst, Pancreatic calcification, Steatorrhea, Pleural effusion, Diabetes mellitus... |
OMIM:167800 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Spasticity, Seizure, Bilateral tonic-clonic seizure, Hypertonia, Generalized non-motor (absence) ... |
OMIM:616281 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Organic aciduria, Hypoglycemia, Hepatomegaly |
OMIM:614741 |
Sarcosinemia |
|
Bilateral tonic-clonic seizure, Tetraparesis, Ataxia |
ORPHA:3129 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria, Dehydration |
OMIM:602199 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Shigellosis |
|
Intestinal perforation, Hemolytic-uremic syndrome, Acute kidney injury, Paralytic ileus, Ulcerati... |
ORPHA:810 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Hyperphosphaturia, Hepatomegaly, Dysphagia, Dehydration, Low-molecular-weight prot... |
OMIM:219800 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Focal motor seizure, Spastic paraparesis, Bilateral tonic-clonic seizure, Complex febrile seizure... |
OMIM:619338 |
Netherton Syndrome |
|
Aminoaciduria, Malabsorption, Ectopic kidney, Dehydration, Hydronephrosis |
ORPHA:634 |
5Q14.3 Microdeletion Syndrome |
|
Agenesis of cerebellar vermis, Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:228384 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Progressive spastic paraplegia, Progressive spastic paraparesis, Cerebellar vermis atrophy, Falls... |
ORPHA:329308 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Motor tics |
OMIM:619927 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased testicular... |
ORPHA:90791 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:121200 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Poor coordination, Recurrent hand flapping, Gait disturbance, Abnormal... |
ORPHA:544254 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:615697 |
4Q21 Microdeletion Syndrome |
|
Seizure, Cerebellar hypoplasia, Abnormal repetitive mannerisms, Tremor, Agenesis of corpus callosum |
ORPHA:238750 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Ketonuria, Jaundice, Hepatosplenomegaly, Hepatic steatosis, Increased urinary glycerol, Cholestas... |
ORPHA:247598 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Infantile spasms, Hyperactivity, Seizure |
OMIM:619031 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Gracile Syndrome |
|
Aminoaciduria, Cholestasis |
OMIM:603358 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Atelectasis |
OMIM:267450 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Splenomegaly, Hepatomegaly |
ORPHA:417 |
Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Peritonitis, Edema, Hyperglycemia, Ascites |
ORPHA:391673 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Bilateral tonic-clonic seizure, Seizure |
ORPHA:329329 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Hypercalciuria, Distal renal tubular acidosis, Dehydration |
OMIM:602722 |
Early Infantile Epileptic Encephalopathy |
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Generalized clonic seizure, EEG abnormality, Focal-onset seizure, Choreoathetosis, Atonic seizure... |
ORPHA:1934 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Spasticity, Hyperactivity, Seizure, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor |
OMIM:612716 |
Lafora Disease |
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Bilateral tonic-clonic seizure with focal onset, Erratic myoclonus, Spasticity, Seizure, Inabilit... |
ORPHA:501 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
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Myoclonic seizure, Inability to walk, Focal-onset seizure, Atonic seizure, Focal impaired awarene... |
OMIM:616973 |
Glycogen Storage Disease 0, Muscle |
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Bilateral tonic-clonic seizure |
OMIM:611556 |
Intellectual Developmental Disorder, X-Linked 98 |
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Hyperactivity, Stereotypical hand wringing, Bulimia, Generalized myoclonic seizure, Hypsarrhythmi... |
OMIM:300912 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Gait ataxia, Hyperinsulinemia, Hyperactivity, Spasticity, Seizure, Abnormal pyramidal sign, Myocl... |
ORPHA:363400 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Bilateral tonic-clonic seizure with focal onset, Seizure, Myoclonus, Status epilepticus, Clonic s... |
OMIM:610539 |
Hydroxykynureninuria |
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Aminoaciduria, Jaundice |
OMIM:236800 |
Proximal Renal Tubular Acidosis |
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Aminoaciduria, Hyperuricosuria, Glycosuria, Malabsorption, Hyperphosphaturia, Bicarbonate-wasting... |
ORPHA:47159 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
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Polyhydramnios, Dehydration |
OMIM:616069 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Patent ductus arteriosus, Colon perfo... |
OMIM:600001 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
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Spasticity, Recurrent hand flapping, Seizure, Chiari type I malformation |
OMIM:618859 |
Xq25 Microduplication Syndrome |
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Hyperactivity, Seizure, Cerebellar hypoplasia |
ORPHA:521258 |
Combined Oxidative Phosphorylation Deficiency 27 |
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Chorea, Cerebellar hypoplasia, Myoclonus, Multifocal epileptiform discharges, Status epilepticus,... |
OMIM:616672 |
3-Methylglutaconic Aciduria, Type Viib |
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Polyhydramnios, 3-Methylglutaconic aciduria, Neonatal hypoglycemia, Hepatic steatosis, Dehydration |
OMIM:616271 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
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Hyperaldosteronism, Pseudohypoaldosteronism, Renal salt wasting, Dehydration |
OMIM:264350 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Microvesicular hepatic steatosis, Pulmonary edema, Ketonuria, Anteriorly placed anus, Hypoglycemi... |
OMIM:220111 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
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Bradykinesia, Seizure, Spastic tetraplegia, Spastic gait, Resting tremor, Shuffling gait, Parkins... |
OMIM:300055 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Myoclonic seizure, Spasticity, Involuntary movements, Abnor... |
ORPHA:572013 |
Cerebral Creatine Deficiency Syndrome 3 |
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Organic aciduria |
OMIM:612718 |
Molybdenum Cofactor Deficiency, Complementation Group C |
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Generalized-onset seizure, Limb hypertonia, Cerebellar hypoplasia, Generalized myoclonic seizure,... |
OMIM:615501 |
African Iron Overload |
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Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Hepatocellular carcinoma, Hepa... |
ORPHA:139507 |
Amish Lethal Microcephaly |
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Limb hypertonia, Spina bifida, Bilateral tonic-clonic seizure, Agenesis of corpus callosum, Cereb... |
ORPHA:99742 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Hyperglycemia, Hydrocephalus, Alcoholism, Seizure |
ORPHA:90065 |
Primary Fanconi Renotubular Syndrome |
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Renal phosphate wasting, Hyperuricosuria, Glycosuria, Stage 5 chronic kidney disease, Renal sodiu... |
ORPHA:3337 |
Intellectual Developmental Disorder, X-Linked 101 |
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Hyperactivity, Seizure |
OMIM:300928 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
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Cerebellar dysplasia, Cerebellar hypoplasia, Retinal dystrophy, Cerebellar vermis hypoplasia, Fac... |
OMIM:613155 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
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Hyperactivity, Spasticity, EEG abnormality, Hypsarrhythmia, Babinski sign, Tonic seizure, Dysmetr... |
OMIM:617773 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
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Hyperactivity, Seizure, EEG with polyspike wave complexes |
OMIM:617169 |
Dk1-Cdg |
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Seizure, Focal-onset seizure, Hypsarrhythmia, Multifocal epileptiform discharges, Bilateral tonic... |
ORPHA:91131 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
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Hyperactivity, Seizure, Inferior cerebellar vermis hypoplasia, Recurrent hand flapping, Bruxism |
OMIM:613192 |
Isovaleric Acidemia |
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Hyperglycinuria, Dehydration |
OMIM:243500 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
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Spasticity, Seizure, Inability to walk, Limb hypertonia, Ataxia, Bilateral tonic-clonic seizure, ... |
ORPHA:481152 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
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EEG with generalized epileptiform discharges, Seizure, EEG abnormality, Inability to walk, Limb h... |
ORPHA:488613 |
Mercaptolactate-Cysteine Disulfiduria |
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Bilateral tonic-clonic seizure |
OMIM:249650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar cyst, Hypoplasia of the pons, Retinal det... |
OMIM:613153 |
Generalized Pseudohypoaldosteronism Type 1 |
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Glucocortocoid-insensitive primary hyperaldosteronism, Cholelithiasis, Dehydration |
ORPHA:171876 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
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Myoclonic seizure, Spasticity, Hypsarrhythmia, EEG with focal sharp slow waves, Tonic seizure, Bi... |
OMIM:619983 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Hyperactivity, Seizure, EEG abnormality, Ataxia, Polyphagia, Broad-based gait |
ORPHA:411515 |
Pyruvate Dehydrogenase E2 Deficiency |
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Oculomotor apraxia, Choreoathetosis, Jerky head movements, Ataxia |
OMIM:245348 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
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Dilated fourth ventricle, Hyperactivity, Cerebellar dysplasia, Seizure, Lateral ventricle dilatat... |
OMIM:617751 |