| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| 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 59 |
|
Aggressive behavior |
OMIM:617323 |
| Fever, Familial Lifelong Persistent |
|
Fever |
OMIM:228400 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized sp... |
OMIM:601068 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Focal aware seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-i... |
OMIM:614417 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes |
OMIM:611364 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Seizure, EEG with polyspike wave complexes, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral... |
OMIM:615127 |
| Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Focal-onset seizure, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, ... |
OMIM:613608 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... |
OMIM:600512 |
| Developmental And Epileptic Encephalopathy 15 |
|
Myoclonic seizure, Hypsarrhythmia, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic se... |
OMIM:615006 |
| Intellectual Developmental Disorder, Autosomal Recessive 52 |
|
Aggressive behavior |
OMIM:616887 |
| Landau-Kleffner Syndrome |
|
Generalized clonic seizure, Interictal EEG abnormality, EEG with temporal focal spikes, Focal imp... |
ORPHA:98818 |
| Semantic Dementia |
|
Dementia, Abulia |
ORPHA:100069 |
| Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Fever |
ORPHA:183713 |
| Centralopathic Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Focal-onset seizure, EEG wit... |
OMIM:117100 |
| Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Mul... |
OMIM:615369 |
| Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... |
OMIM:254770 |
| 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 |
| Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure, EEG abnormality |
OMIM:614115 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure with visual features, Myoclonus, Interictal epileptiform activity, Bilatera... |
OMIM:615400 |
| Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, EEG abnormality |
OMIM:617643 |
| Developmental And Epileptic Encephalopathy 104 |
|
Seizure, Hypsarrhythmia, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal imp... |
OMIM:619970 |
| Continuous Spikes And Waves During Sleep |
|
EEG with centrotemporal focal spike waves, Focal-onset seizure, Focal clonic seizure, Interictal ... |
ORPHA:725 |
| Developmental And Epileptic Encephalopathy 12 |
|
Focal-onset seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure, Epileptic spasm |
OMIM:613722 |
| Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with spike-wave complexes (>3.... |
OMIM:600669 |
| Familial Cold Autoinflammatory Syndrome 4 |
|
Fever |
OMIM:616115 |
| Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Focal impaired a... |
OMIM:607745 |
| Anhidrosis, Isolated, With Normal Sweat Glands |
|
Heat intolerance |
OMIM:106190 |
| Neuropathy, Hereditary Thermosensitive |
|
Fever |
OMIM:602107 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... |
ORPHA:101046 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Generalized tonic seizure, Aggressive behavior, Falls, EEG abnormality, Focal-onse... |
ORPHA:2382 |
| Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure with focal onset, Hypsarrhythmia, Bilateral tonic-clonic seizure, ... |
OMIM:616056 |
| Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, EEG with generalized epileptiform discharges, Se... |
ORPHA:163721 |
| Developmental And Epileptic Encephalopathy 56 |
|
Myoclonic seizure, Seizure, Focal motor seizure, EEG abnormality, EEG with polyspike wave complex... |
OMIM:617665 |
| Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic-clonic se... |
OMIM:607631 |
| Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... |
ORPHA:306 |
| Perioral Myoclonia With Absences |
|
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... |
ORPHA:139426 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonic seizure, Myoclonus, EEG with generalized epileptiform discharges, Bilateral tonic-cloni... |
OMIM:616187 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| 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 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Myoclonic seizure, Aggressive behavior, Seizure, Focal-onset seizure, Interictal epileptiform act... |
OMIM:619157 |
| Developmental And Epileptic Encephalopathy 54 |
|
Seizure, EEG abnormality, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic s... |
OMIM:617391 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Fever |
ORPHA:319600 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Myoclonus, Interictal epileptiform activity, Bilateral tonic-c... |
OMIM:254800 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Myoclonic status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Tremor, Atonic s... |
OMIM:614018 |
| Developmental And Epileptic Encephalopathy 53 |
|
Myoclonic seizure, Seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure, Convul... |
OMIM:617389 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:608762 |
| Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal aware sensory seizure with a... |
OMIM:616461 |
| Familial Focal Epilepsy With Variable Foci |
|
Focal-onset seizure, Deja vu aura, Focal aware seizure, Interictal EEG abnormality, Hypsarrhythmi... |
ORPHA:98820 |
| Epilepsy, Pyridoxine-Dependent |
|
EEG with burst suppression, Generalized myoclonic seizure, Status epilepticus, Clonic seizure, Bi... |
OMIM:266100 |
| Developmental And Epileptic Encephalopathy 9 |
|
Aggressive behavior, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Foca... |
OMIM:300088 |
| Lissencephaly 10 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... |
OMIM:618873 |
| Jeavons Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... |
ORPHA:139431 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Aggressive behavior, Seizure, EEG abnormality, Self-injurious behavior, Generalize... |
OMIM:271980 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, EEG abnormality |
OMIM:610003 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Gait ataxia, Seizure, EEG abnormality, Generalized myoclonic seizure, Ataxia, ... |
OMIM:617831 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal motor seizure, Myoclonus, Bilateral tonic-clonic seizure, Focal hemifacial clonic seizure, ... |
OMIM:608105 |
| Developmental And Epileptic Encephalopathy 13 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:614558 |
| Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, EEG wit... |
ORPHA:1941 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Cogniti... |
ORPHA:36387 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Status epilepticus, EEG abnormality |
OMIM:617171 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus |
ORPHA:22 |
| Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Aggressive behavior, Typical absence seizure, Seizure, Hypsarrhythmia, Bilater... |
OMIM:616409 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... |
OMIM:607682 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Delayed myelination, Aggressive behavior, Seizure, Self-injurious behavior, Anxiet... |
ORPHA:485350 |
| Obsessive-Compulsive Disorder |
|
Skin-picking, Depression, Anxiety |
OMIM:164230 |
| Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Hypsarrhythmia, Generalized myoclonic seizure, Seizure |
OMIM:616341 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Seizure, Optic atrophy, Inability to walk, Focal-onset seizure, Oculogyric crisis, Generalized my... |
ORPHA:330050 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... |
ORPHA:101039 |
| Seizures, Benign Familial Infantile, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... |
OMIM:601764 |
| Unilateral Hemispheric Polymicrogyria |
|
Focal-onset seizure, Generalized myoclonic seizure, Focal atonic seizure, Bilateral tonic-clonic ... |
ORPHA:101071 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Absence seizure with eyelid myoclonia, EEG with polyspike wave complexes, Truncal at... |
OMIM:618587 |
| Dravet Syndrome |
|
Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure... |
OMIM:607208 |
| Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Choreoathetosis, Tonic seizure, Bilateral tonic-cloni... |
OMIM:618396 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Typical absence seizure, Seizure, Inability to walk, Eyelid myoclonus, Myoclonus,... |
ORPHA:2590 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Seizure, EEG abnormality |
OMIM:608636 |
| Developmental And Epileptic Encephalopathy 43 |
|
Myoclonic seizure, Hyperactivity, Hypsarrhythmia, Ataxia, Bilateral tonic-clonic seizure, Atonic ... |
OMIM:617113 |
| Developmental And Epileptic Encephalopathy 67 |
|
EEG abnormality, Hypsarrhythmia, Generalized myoclonic seizure, Gait disturbance, Focal hemicloni... |
OMIM:618141 |
| Seizures, Benign Familial Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:121201 |
| Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Generalized m... |
ORPHA:86909 |
| Myoclonic-Atonic Epilepsy |
|
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Ataxia, Tremor, Atonic... |
OMIM:616421 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Myoclonic seizure, Gait ataxia, EEG abnormality, Optic atrophy, Inability to walk, Bilateral toni... |
OMIM:617810 |
| Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Inability to walk, Focal-onset seizur... |
OMIM:619317 |
| Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
| Developmental And Epileptic Encephalopathy 59 |
|
Self-injurious behavior, Inability to walk, Hypsarrhythmia, Multifocal epileptiform discharges, F... |
OMIM:617904 |
| Epilepsy, Familial Temporal Lobe, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal impaired awareness seizure |
OMIM:611630 |
| Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
| Sudden Infant Death Syndrome |
|
Malignant hyperthermia |
OMIM:272120 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Dravet Syndrome |
|
Generalized clonic seizure, Epilepsia partialis continua, Focal-onset seizure, Interictal epilept... |
ORPHA:33069 |
| Developmental And Epileptic Encephalopathy 27 |
|
Myoclonic seizure, Seizure, Hypsarrhythmia, Myoclonus, Bilateral tonic-clonic seizure, Infantile ... |
OMIM:616139 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic seizure, Increased theta frequency activity in EEG, EEG with polyspike wave complexes, ... |
OMIM:619000 |
| 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 |
| Pyridoxine-Dependent Epilepsy |
|
Restlessness, Seizure, EEG with generalized epileptiform discharges, Focal-onset seizure, Hypsarr... |
ORPHA:3006 |
| Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:613721 |
| Developmental And Epileptic Encephalopathy 98 |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with burst suppression,... |
OMIM:619605 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Aggressive behavior, Seizure, Choreoathetosis, Ataxia, Torsion dystonia, Irritability, Dystonia, ... |
ORPHA:98811 |
| Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Slender build, Bilateral tonic-clonic seizure |
OMIM:617709 |
| Dysplasia Of Head Of Femur, Meyer Type |
|
Antalgic gait, Fever, Waddling gait |
ORPHA:168621 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Seizure, Focal-onset seizure, Myoclonus, Ataxia, Emotional lability, Dementia, Bilat... |
OMIM:615362 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
| Developmental And Epileptic Encephalopathy 91 |
|
Myoclonic seizure, Seizure, Focal motor seizure, Hypsarrhythmia, Multifocal epileptiform discharg... |
OMIM:617711 |
| Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Abnormal emotion/affect behavior, EEG with polyspike wave complexes, Focal-onset s... |
ORPHA:1942 |
| Malignant Hyperthermia, Susceptibility To, 4 |
|
Malignant hyperthermia |
OMIM:600467 |
| Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Attention deficit hyperactivity disorder, In... |
OMIM:619639 |
| Developmental And Epileptic Encephalopathy 103 |
|
Myoclonic seizure, Hyperactivity, Continuous spike and waves during slow sleep, EEG with polyspik... |
OMIM:619913 |
| Rolandic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
ORPHA:1945 |
| Episodic Ataxia, Type 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Myoclonus... |
OMIM:613855 |
| 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 |
| Salt And Pepper Developmental Regression Syndrome |
|
Optic atrophy, Myoclonus, Choreoathetosis, Status epilepticus, Multifocal epileptiform discharges... |
OMIM:609056 |
| Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
EEG with spike-wave complexes (>3.5 Hz), Seizure, Generalized non-motor (absence) seizure, Bilate... |
OMIM:609446 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Aggressive behavior, Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Genera... |
OMIM:618357 |
| 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 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Gait disturbance, Dementia, Bilat... |
OMIM:616230 |
| 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 |
| Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure, EEG abnormality |
OMIM:612621 |
| Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:614499 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Developmental And Epileptic Encephalopathy 109 |
|
Myoclonic seizure, Gait ataxia, Hyperactivity, Typical absence seizure, Crouch gait, Myoclonus, F... |
OMIM:620145 |
| Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Inability to walk, Focal-onset seizure, Interictal epileptiform act... |
ORPHA:1929 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:616685 |
| Juvenile Myoclonic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Aggress... |
ORPHA:307 |
| Yoon-Bellen Neurodevelopmental Syndrome |
|
Hypsarrhythmia, Generalized myoclonic-atonic seizure, Status epilepticus, Failure to thrive, Bila... |
OMIM:619701 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, EEG with series of focal spikes, Inability to walk, Focal-onset seizure, Atoni... |
ORPHA:168491 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonic seizure, Seizure, Myoclonus, Ataxia, Dementia, Bilateral tonic-clonic seizure, Depression |
OMIM:162350 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Seizure, Suicidal ideation, Pseudobu... |
ORPHA:208441 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Bilateral tonic-clonic seizure, Generalized-onset seizure, EEG with spike-wave complexes (>3.5 Hz... |
ORPHA:79137 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| 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 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Attention deficit hyperactivity dis... |
OMIM:619191 |
| Developmental And Epileptic Encephalopathy 42 |
|
Myoclonic seizure, EEG abnormality, Focal tonic seizure, Tonic seizure, Bilateral tonic-clonic se... |
OMIM:617106 |
| Developmental And Epileptic Encephalopathy 99 |
|
Focal-onset seizure, Eyelid myoclonus, Multifocal epileptiform discharges, Status epilepticus, Fo... |
OMIM:619606 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Focal-onset seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Ataxia, Deme... |
OMIM:204300 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Generalized myoclonic seizu... |
ORPHA:382 |
| Polymicrogyria, Bilateral Temporooccipital |
|
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Focal impaired awareness sei... |
OMIM:612691 |
| Perrault Syndrome 3 |
|
Seizure, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizin... |
OMIM:614129 |
| Developmental And Epileptic Encephalopathy 24 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... |
OMIM:615871 |
| Bilateral Generalized Polymicrogyria |
|
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... |
ORPHA:208447 |
| 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 |
| Unilateral Focal Polymicrogyria |
|
Bilateral tonic-clonic seizure with focal onset, EEG with central focal spikes, Aggressive behavi... |
ORPHA:268947 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Seizure, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed puberty, Primary amenorrhea, D... |
OMIM:616033 |
| Isolated Focal Cortical Dysplasia |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Seizure, Focal-onset ... |
ORPHA:65683 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Seizure, Optic atrophy, Myoclonus, Psychomotor deterioration, Dementia, Bilateral tonic-clonic se... |
OMIM:204200 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
EEG abnormality, Optic atrophy, Inability to walk, Bilateral tonic-clonic seizure, Decreased nerv... |
ORPHA:457205 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
EEG abnormality, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Tremor, M... |
OMIM:617836 |
| 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 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal aware seizure, Bilateral ton... |
OMIM:608096 |
| Episodic Ataxia, Type 9 |
|
Seizure, Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure |
OMIM:618924 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Myoclonus, Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complex... |
OMIM:607876 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, My... |
ORPHA:263516 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure with focal onset, Hypsarrhythmia, Bilateral tonic-clonic seizure, ... |
OMIM:618856 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Optic atrophy, Truncal ataxia... |
OMIM:611726 |
| Developmental And Epileptic Encephalopathy 57 |
|
Seizure, Hypsarrhythmia, Generalized myoclonic seizure, Tonic seizure, Epileptic spasm, Atypical ... |
OMIM:617771 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Myoclonus, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Act... |
OMIM:616540 |
| Ceroid Lipofuscinosis, Neuronal, 6A |
|
Abnormal nervous system electrophysiology, Seizure |
OMIM:601780 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure |
OMIM:617863 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Aggressive behavior, Seizure, Agitation, Bilateral tonic-clonic seizure, Anxiety, ... |
OMIM:300558 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Gait imbalance, Seizure, Generalized myoclonic seizure, Choreoathetosis, Myoclonus, Ataxia, Demen... |
OMIM:301020 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Inappropriate behavior, Frontotemporal dementia, Aggressive behavior, Emotional blunting, Memory ... |
ORPHA:275864 |
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Cognitive impairment, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence se... |
OMIM:300388 |
| Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu... |
OMIM:620115 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Generalized-onset seizure, Hyperactivity, Aggressive behavior, Seizure, EEG abnormality, Bilatera... |
OMIM:604317 |
| Developmental And Epileptic Encephalopathy 63 |
|
Myoclonic seizure, Generalized-onset seizure, Generalized tonic seizure, Seizure, EEG with genera... |
OMIM:617976 |
| Pontiac Fever |
|
Fever |
ORPHA:99748 |
| Epilepsy, Familial Temporal Lobe, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:615697 |
| 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 |
| Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal-onset seizure, Status epilepticus... |
OMIM:616645 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Optic atrophy, Limb ataxia, Ataxia, Bilateral tonic-clonic seizure |
OMIM:614322 |
| Developmental And Epileptic Encephalopathy 19 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Status epilepti... |
OMIM:615744 |
| Premature Ovarian Failure 17 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm... |
OMIM:619146 |
| Angelman Syndrome |
|
EEG abnormality, Optic atrophy, Inability to walk, Happy demeanor, Atonic seizure, Dysphagia, Del... |
ORPHA:72 |
| Spinocerebellar Ataxia 48 |
|
Gait ataxia, Anxiety, Ataxia, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Depression, Dysp... |
OMIM:618093 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
| Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
| 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, Small f... |
ORPHA:289266 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Myoclonic seizure, EEG with burst suppression, Myoclonus, Clonic seizure, Tonic seizure, Bilatera... |
OMIM:617290 |
| Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:121200 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, EEG with occipital epileptiform discharges, Seiz... |
OMIM:619428 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Hyperactivity, Inability to walk, Generalized myoclonic seizure, Gait disturbance, T... |
OMIM:618090 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, EEG with generalized epileptiform discharges, Hyperinsulinemic hypogly... |
ORPHA:35878 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Aggressive behavior, Memory impairment, Seizure, Generalized non-motor (absence) seizure |
OMIM:247100 |
| Lafora Disease |
|
Erratic myoclonus, Inability to walk, Focal-onset seizure, Atonic seizure, Focal impaired awarene... |
ORPHA:501 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Myoclonic seizure, Atypical absence seizure, Myoclonic absence seizure, Multifocal epileptiform d... |
OMIM:618596 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Self-injurious behavior, Bilateral tonic-clonic seizure, Anxiety, Gene... |
OMIM:615637 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Self-injurious behavior, Multifocal epileptiform discharges, Bilateral tonic-clonic seizure, Dela... |
OMIM:617493 |
| Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate... |
OMIM:300511 |
| Bilateral Frontoparietal Polymicrogyria |
|
Typical absence seizure, Seizure, Gait imbalance, Generalized myoclonic seizure, Cerebral dysmyel... |
ORPHA:101070 |
| Myoclonic Epilepsy, Familial Infantile |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset seizure, Gene... |
OMIM:605021 |
| Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms... |
OMIM:619616 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Gait ataxia, Hand tremor, Bilateral tonic-clonic seizure, Dysphagia, Broad-based gait |
OMIM:617862 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Optic atrophy, CNS demyelination, Bilateral tonic-clonic seizure, Irritability, Dystonia |
OMIM:618237 |
| Severe Canavan Disease |
|
Seizure, Inability to walk, Optic atrophy, Bilateral tonic-clonic seizure, Irritability, Oral-pha... |
ORPHA:314911 |
| Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... |
OMIM:612964 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Leukodystrophy, Ataxia, Difficulty walking, Generalized non-motor (absence) seizure |
OMIM:618242 |
| Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
| Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
| Kohlschutter-Tonz Syndrome |
|
Myoclonic seizure, Seizure, Focal-onset seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure |
OMIM:226750 |
| Developmental And Epileptic Encephalopathy 41 |
|
Myoclonic seizure, Generalized tonic seizure, EEG abnormality, Inability to walk, Hypsarrhythmia,... |
OMIM:617105 |
| Cln3 Disease |
|
Myoclonic seizure, Aggressive behavior, Seizure, Optic atrophy, Shuffling gait, Focal-onset seizu... |
ORPHA:228346 |
| Developmental And Epileptic Encephalopathy 23 |
|
Hypsarrhythmia, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal i... |
OMIM:615859 |
| Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:619938 |
| Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Bilateral tonic-clonic seizure, Complex febrile seizure, Status epilepticus without prominent mot... |
ORPHA:363549 |
| Congenital Disorder Of Glycosylation, Type Iaa |
|
Failure to thrive, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617082 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Primary gonadal insufficiency, Decreased circulating progesterone, Seizure, Optic atrophy, Second... |
OMIM:603896 |
| Cyclic Neutropenia |
|
Fever |
OMIM:162800 |
| Dystonia 31 |
|
Abnormal posturing, Difficulty walking |
OMIM:619565 |
| Developmental And Epileptic Encephalopathy 47 |
|
EEG abnormality, Inability to walk, Focal-onset seizure, Hypsarrhythmia, Multifocal epileptiform ... |
OMIM:617166 |
| Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:612310 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Generalized tonic seizure, Inability to walk, Hypsarrhythmia, Myoclonus, Multifocal epileptiform ... |
ORPHA:411986 |
| Developmental And Epileptic Encephalopathy 52 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:617350 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Focal-onset seizure, Clonic seizure, Simple febrile seizure, Bilateral tonic-clonic seizure, Foca... |
OMIM:617935 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Seizure, EEG abnormality, Status epilepticus, Bilateral tonic-clonic seizure, Focal impaired awar... |
OMIM:613970 |
| Premature Ovarian Failure 14 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:618014 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Hyperhidrosis, Cognitive impairment, Seizure, Anxiety, Myoclonic spasms, Motor deterioration, Int... |
ORPHA:79264 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
| Foxg1 Syndrome |
|
Paroxysmal bursts of laughter, Delayed myelination, Cognitive impairment, Inability to walk, Foca... |
ORPHA:561854 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Generalized-onset seizure, Hyperactivity, Aggressive behavior, Seizure, E... |
OMIM:619827 |
| Ovarian Dysgenesis 5 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:617690 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Delayed myelination, Typical absence seizure, Seizure, Happy demeanor, Attention deficit hyperact... |
ORPHA:576283 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
| Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619834 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
| Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... |
OMIM:615723 |
| Macrophagic Myofasciitis |
|
Fever |
ORPHA:592 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Self-injurious behavi... |
OMIM:618917 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Myoclonic seizure, Seizure, Inability to walk, Myoclonus, Choreoathetosis, Tonic seizure, Bilater... |
OMIM:618497 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Inability to walk, Focal-onset seizure, Limb dystonia, Atonic seizure, Focal i... |
OMIM:616973 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:139406 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Self-injurious behavior, EEG abnormality, Inability to walk, Focal-onset seizure, Convulsive stat... |
OMIM:618760 |
| Premature Ovarian Failure 10 |
|
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... |
OMIM:612885 |
| New-Onset Refractory Status Epilepticus |
|
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, EEG with frontal epileptiform... |
ORPHA:363558 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Dystonia |
OMIM:618425 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Androgen Insensitivity Syndrome |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:300068 |
| Non-Functioning Pituitary Adenoma |
|
Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci... |
ORPHA:91349 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Delayed myelination, Polyphagia, Seizure, Generalized non-motor (absence) seizure |
OMIM:613886 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Aggressive behavior, Spastic ataxia, Cognitive impairment, Pseudobulbar paralysis, Apathy, Gait d... |
ORPHA:199354 |
| Infantile Cerebellar-Retinal Degeneration |
|
Optic atrophy, Focal-onset seizure, Demyelinating peripheral neuropathy, Ataxia, Bilateral tonic-... |
OMIM:614559 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... |
OMIM:618086 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Seizure, Falls, Gait disturbance, Impaired tandem gait, Bilateral tonic-clonic seizure, Delayed C... |
OMIM:300423 |
| Periventricular Nodular Heterotopia 7 |
|
Seizure, Hypsarrhythmia, Ataxia, Delayed CNS myelination, Cryptorchidism, Infantile spasms, Optic... |
OMIM:617201 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Bilateral tonic-clonic seizure, Atonic seizure, Seizure |
OMIM:309530 |
| Familial Infantile Myoclonic Epilepsy |
|
Limb myoclonus, Seizure, Focal-onset seizure, Generalized myoclonic seizure, Interictal EEG abnor... |
ORPHA:352582 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Focal impaired awareness seizure, Polyphagia, Self-mutilation, Generalized n... |
OMIM:616521 |
| Peho-Like Syndrome |
|
Hypsarrhythmia, Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus |
OMIM:617507 |
| Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Dystonia |
OMIM:104290 |
| Developmental And Epileptic Encephalopathy 90 |
|
Focal-onset seizure, Hypsarrhythmia, EEG with burst suppression, Bilateral tonic-clonic seizure, ... |
OMIM:301058 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Focal emotional seizure with laughing, Delayed myelination, Hypogonadism, Inappropriate crying, G... |
ORPHA:79351 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle, Resting tremor, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Delay... |
OMIM:619725 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Dehydration |
ORPHA:28 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Delayed CNS myelination, ... |
OMIM:619301 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Myoclonic seizure, Hyperactivity, Myoclonus, Bilateral tonic-clonic seizure, Focal impaired aware... |
OMIM:617600 |
| Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
| Early Infantile Epileptic Encephalopathy |
|
Generalized clonic seizure, Precocious puberty, EEG abnormality, Focal-onset seizure, Choreoathet... |
ORPHA:1934 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Folinic Acid-Responsive Seizures |
|
Delayed myelination, Seizure, Optic atrophy, Hypsarrhythmia, Generalized myoclonic seizure, Multi... |
ORPHA:79097 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Seizure, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Multifocal seizures, Intention tremor... |
OMIM:618170 |
| Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... |
OMIM:615724 |
| Harel-Yoon Syndrome |
|
Optic atrophy, Inability to walk, Ataxia, Dystonia, Generalized non-motor (absence) seizure |
OMIM:617183 |
| Gangliocytoma |
|
Hyperhidrosis, Adrenocorticotropic hormone excess, Impotence, Decreased female libido, Focal-onse... |
ORPHA:251937 |
| Hyperprolinemia Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Aggress... |
ORPHA:79101 |
| Sarcosinemia |
|
Emotional lability, Ataxia, Bilateral tonic-clonic seizure, Optic atrophy |
ORPHA:3129 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Delayed CNS myelination, ... |
OMIM:619302 |
| Lissencephaly 3 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Seizure, Ataxia |
OMIM:611603 |
| Developmental And Epileptic Encephalopathy 18 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, EEG abnormality, Foca... |
OMIM:615476 |
| Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
| Dopa-Responsive Dystonia |
|
Hyperhidrosis, Generalized tonic seizure, Delayed myelination, Seizure, Inability to walk, Fatiga... |
ORPHA:255 |
| Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Bilateral tonic-clonic seizure with focal onset, Self-injurious behavior, Focal-onset seizure, Bi... |
OMIM:618354 |
| Developmental And Epileptic Encephalopathy 4 |
|
Generalized tonic seizure, EEG with burst suppression, Hypsarrhythmia, Generalized myoclonic seiz... |
OMIM:612164 |
| Dk1-Cdg |
|
Seizure, Focal-onset seizure, Hypsarrhythmia, Multifocal epileptiform discharges, Failure to thri... |
ORPHA:91131 |
| Developmental And Epileptic Encephalopathy 37 |
|
Myoclonus, Choreoathetosis, Gait disturbance, Focal hemiclonic seizure, Bilateral tonic-clonic se... |
OMIM:616981 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Gait ataxia, Gait imbalance, Seizure, EEG with focal spikes, Bilateral tonic-clonic seizure, Seve... |
ORPHA:488635 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Onion bulb formation, Spastic ataxia, Cognitive impairment, Dysdiadochokinesis, Myoclonus, Genera... |
OMIM:614487 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Myoclonic seizure, Gait ataxia, Paroxysmal bursts of laughter, Aggressive behavior, Inability to ... |
OMIM:619580 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Gait disturbance, Ataxia, Eating-induced seizure, Tremor, Myoclonic ab... |
ORPHA:544254 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Seizure, Decreased testicular size, Gait d... |
ORPHA:457240 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Bilateral tonic-clonic seizure, Myoclonus, Failure to thrive in infancy |
OMIM:619065 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
EEG with frontal sharp slow waves, Seizure, EEG abnormality, Inability to walk, Self-injurious be... |
ORPHA:457351 |
| Tuberculosis |
|
Fever |
ORPHA:3389 |
| 46,Xy Sex Reversal 11 |
|
Primary amenorrhea, Elevated circulating luteinizing hormone level, Absence of pubertal developme... |
OMIM:273250 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Seizure, Myoc... |
OMIM:612736 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Gait ataxia, Falls, Bilateral tonic-clonic seizure, Dysmetria, Unsteady gait, Dystonia |
OMIM:203740 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Seizure, Generalized myoclonic seizure, Ataxia, Puberty and gonadal disorders, Bilateral tonic-cl... |
ORPHA:464282 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
| Perrault Syndrome 1 |
|
Gait ataxia, Ataxia, Increased circulating gonadotropin level, Primary amenorrhea, Intention tremor |
OMIM:233400 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination, Hand tremor, Spastic gait |
ORPHA:401840 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Focal sensory seizure, Generalized-onset seizure, Normal interictal EEG, Paroxysmal dystonia, Foc... |
OMIM:602066 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
EEG abnormality, Dysdiadochokinesis, Demyelinating peripheral neuropathy, Myoclonus, Generalized ... |
ORPHA:313772 |
| Childhood Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... |
ORPHA:64280 |
| Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Infantile spasms, Bilateral tonic-clonic seizure, Broad-based gait, Inability to walk |
OMIM:618470 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Gait ataxia, Seizure, EEG abnormality, Optic atrophy, Status epilepticus, Bilateral tonic-clonic ... |
ORPHA:529665 |
| Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
| 46,Xy Sex Reversal 1 |
|
Absence of secondary sex characteristics, Abnormality of the menstrual cycle, Elevated circulatin... |
OMIM:400044 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Delayed myelination, Optic nerve hypoplasia, Inappropriate laughter, Low frustrati... |
ORPHA:363686 |
| Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Optic atrophy, Premature ovarian insufficiency, Ataxia, Difficulty walking, Depression, Anxiety, ... |
OMIM:619425 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Primary amenorrhea, Abnormality of peripheral nerve conduction, Decreased serum estradiol, Abnorm... |
ORPHA:168563 |
| Functioning Gonadotropic Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ... |
ORPHA:91348 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Cognitive impairment, Paroxysmal dystonia, Increased theta frequency activity in EEG, Suicidal id... |
ORPHA:98784 |
| Ovarian Dysgenesis 8 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:618187 |
| Liang-Wang Syndrome |
|
Ataxia, Status epilepticus, Dystonia, Generalized non-motor (absence) seizure |
OMIM:618729 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Long eyelashes, Dehydration |
OMIM:616069 |
| Tubulinopathy-Associated Dysgyria |
|
Abnormality of thalamus morphology, Ataxia, Startle-induced seizure, Attention deficit hyperactiv... |
ORPHA:467166 |
| Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure |
OMIM:616281 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Hostility, Seizure, Inability to walk, Anxiety, Status epilepticus, Ataxia, Tonic seizure, Depres... |
OMIM:300260 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Central hypothyroidism, Hyperactivity, Aggressive behavior, Self-biting, Hypsarrhythmia, Generali... |
OMIM:300912 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Precocious puberty, Typical absence seizure, Seizure, Optic atrophy... |
ORPHA:845 |
| Cln5 Disease |
|
Generalized-onset seizure, Hyperactivity, Aggressive behavior, Seizure, Inability to walk, Dysdia... |
ORPHA:228360 |
| Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... |
OMIM:611634 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Seizure, Hypogo... |
OMIM:262600 |
| Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Focal motor seizure, Generalized non-motor (absence) seizure |
OMIM:615553 |
| Developmental And Epileptic Encephalopathy 61 |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, Optic atrophy, Focal clonic seizure, Lo... |
OMIM:617933 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Bilateral tonic-clonic seizure, Gait disturbance, Postural tremor |
ORPHA:100988 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Hyperactivity, Aggressive behavior, Abnormal fear/anxiety-related behavior, Seizu... |
ORPHA:3077 |
| 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 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Decreased testicular size, Type I ... |
ORPHA:3044 |
| Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized non-motor (ab... |
OMIM:618482 |
| Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
| Autosomal Recessive Frontotemporal Pachygyria |
|
Bilateral tonic-clonic seizure, Seizure |
ORPHA:329329 |
| Developmental And Epileptic Encephalopathy 66 |
|
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized tonic seizure, Se... |
OMIM:618067 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Classic Galactosemia |
|
Decreased fertility in females, Gait imbalance, Seizure, Postural tremor, Secondary amenorrhea, P... |
ORPHA:79239 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Decreased fertility, Absence of secondary sex characteristics, Increased circulating gonadotropin... |
ORPHA:2410 |
| Early-Onset Schizophrenia |
|
Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Suicidal ideation,... |
ORPHA:96369 |
| Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Delayed myelination, Seizure, Optic atrophy, Inability to walk, Myoclonus, Irritability, Gait dis... |
OMIM:618241 |
| Premature Ovarian Failure 1 |
|
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:311360 |
| Meningioma |
|
Enlarged pituitary gland, Impotence, Focal-onset seizure, Decreased circulating cortisol level, S... |
ORPHA:2495 |
| Panhypophysitis |
|
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... |
ORPHA:95513 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... |
OMIM:619338 |
| Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu... |
ORPHA:95619 |
| Progressive Nodular Histiocytosis |
|
Fever |
ORPHA:158022 |
| Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure with focal onset, Focal emotional seizure with laughing, Generaliz... |
OMIM:619881 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Degeneration of anterior horn cells, Generalized myoclonic seizure, My... |
OMIM:159950 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Seizure, EEG abnormality, EEG with generalized epileptiform discharges, Multifocal epileptiform d... |
ORPHA:488613 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Myoclonic seizure, Precocious puberty, Inability to walk, Hypsarrhythmia, Bilateral tonic-clonic ... |
OMIM:619877 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized non-motor ... |
OMIM:619854 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Falls, Optic atrophy, Anxiety, Focal-onset seizure, Progressive gait ataxia, Bipolar affective di... |
ORPHA:329308 |
| Aminoacylase 1 Deficiency |
|
Bilateral tonic-clonic seizure, Delayed CNS myelination, Seizure, Hyperactivity |
OMIM:609924 |
| Central Diabetes Insipidus |
|
Lethargy, Dehydration |
ORPHA:178029 |
| Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Bilateral cryp... |
ORPHA:99429 |
| Precocious Puberty, Central, 1 |
|
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... |
OMIM:176400 |
| Aarskog-Scott Syndrome |
|
Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular atrophy, Delayed... |
OMIM:305400 |
| Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... |
OMIM:614324 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Seizure, Optic atrophy, Hypsarrhythmia, Myoclonus, Abnormal myelination, Status epilepticus, Atax... |
ORPHA:442835 |
| Nicolaides-Baraitser Syndrome |
|
Seizure, Abnormal testis morphology, Status epilepticus, Cryptorchidism, Epileptic spasm, General... |
ORPHA:3051 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... |
OMIM:618096 |
| Kohlschutter-Tonz Syndrome-Like |
|
Generalized clonic seizure, Generalized tonic seizure, Seizure, EEG abnormality, Inability to wal... |
OMIM:619229 |
| Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure with focal onset, Hyperactivity, Precocious puberty, Aggressive be... |
ORPHA:163681 |
| Hypercalcemia, Infantile, 1 |
|
Lethargy, Dehydration |
OMIM:143880 |
| Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Fever, Periodic fever |
OMIM:617772 |
| Isovaleric Acidemia |
|
Lethargy, Dehydration |
OMIM:243500 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Lethargy, Choreoathetosis, Ataxia, Dehydration |
ORPHA:27 |
| Hyperthermia, Cutaneous, With Headaches And Nausea |
|
Fever |
OMIM:145590 |
| Transient Neonatal Diabetes Mellitus |
|
Umbilical hernia, Dehydration |
ORPHA:99886 |
| Sulfite Oxidase Deficiency, Isolated |
|
Multifocal epileptiform discharges, Choreoathetosis, Ataxia, Agitation, Bilateral tonic-clonic se... |
OMIM:272300 |
| Sandhoff Disease |
|
Myoclonic seizure, Hyperhidrosis, Exaggerated startle response, Hypohidrosis, Impotence, Ataxia, ... |
OMIM:268800 |
| Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Myoclonic seizure, Hypsarrhythmia, EEG with focal sharp slow waves, Tonic seizure, Bilateral toni... |
OMIM:619983 |
| Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Cognitive impairment, Seizure, Optic atrophy, Focal-onset seizure, Generalized myoclonic seizure,... |
ORPHA:395 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Myoclonic seizure, Seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure, Infant... |
OMIM:600721 |
| Spinocerebellar Ataxia Type 10 |
|
Gait ataxia, Generalized-onset seizure, Aggressive behavior, Gait imbalance, Focal motor seizure,... |
ORPHA:98761 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Generalized-onset seizure, EEG with generalized slow activity grade 4, Cognitive impairment, Seiz... |
ORPHA:79263 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Delayed myelination, Absence seizure with eyelid myoclonia, Eyelid myoclonus, Ataxia, Generalized... |
OMIM:613839 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Lethargy, Choreoathetosis, Dehydration |
ORPHA:79312 |
| Developmental And Epileptic Encephalopathy 106 |
|
Tonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:620028 |
| Canavan Disease |
|
Optic atrophy, Hypsarrhythmia, Multifocal epileptiform discharges, CNS demyelination, Bilateral t... |
OMIM:271900 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Delayed myelination, Seizure, Interictal EEG abnormality, Bilateral tonic-clonic seizure, EEG wit... |
ORPHA:544503 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Cognitive impairment, Seizure, Optic atrophy, Decreased motor nerve conduction velocity, Leukodys... |
OMIM:608804 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Focal emotional seizure with laughing, Delayed myelination, Lingual dystonia, EEG abnormality, Op... |
ORPHA:404454 |
| Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
| Brain Small Vessel Disease 2 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614483 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Dystonia, Episodic ataxia |
ORPHA:53583 |
| Periodic Fever, Menstrual Cycle-Dependent |
|
Fever |
OMIM:614674 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Precocious puberty, Generalized non-motor (absence) seizure, EEG abnormality |
OMIM:300801 |
| Alpers-Huttenlocher Syndrome |
|
Focal-onset seizure, Myoclonus, Choreoathetosis, Ataxia, Bilateral tonic-clonic seizure |
ORPHA:726 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Infantile spasms, Bilateral tonic-clonic seizure, Seizure |
ORPHA:250972 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormal myelination, Abnormality of peripheral nerve conduction, Optic atrophy, Inability to walk |
ORPHA:431329 |
| Lissencephaly Due To Lis1 Mutation |
|
Generalized tonic seizure, Seizure, Focal motor seizure, Hypsarrhythmia, Generalized myoclonic se... |
ORPHA:95232 |
| Developmental And Epileptic Encephalopathy 79 |
|
Myoclonic seizure, Migrating focal seizure, Seizure, Status epilepticus, Tonic seizure, Bilateral... |
OMIM:618559 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure |
OMIM:301076 |
| Ring Chromosome 21 Syndrome |
|
Diabetes insipidus, Seizure, EEG abnormality, Infertility, Generalized myoclonic seizure, Azoospe... |
ORPHA:1445 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG abnormality, Bilateral tonic-c... |
OMIM:617798 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Hyperactivity, Aggres... |
OMIM:610042 |
| Ovarian Dysgenesis 4 |
|
Elevated circulating follicle stimulating hormone level, Decreased serum estradiol, Primary ameno... |
OMIM:616185 |
| Premature Ovarian Failure 16 |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... |
OMIM:618723 |
| X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Gait disturbance, Bilateral tonic-clonic seizure, Atonic seizure, Dysmetria, A... |
ORPHA:93952 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Seizure, Inability to walk, EEG with focal spikes, Hypsarrhythmia, EEG with focal sharp waves, EE... |
ORPHA:79243 |
| Acromesomelic Dysplasia 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:609441 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... |
ORPHA:399805 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Seizure, Resting tremor, Postural tremor, Focal motor seizure, Akinesia, Freezing of gait, Bilate... |
OMIM:619911 |
| Chronic Recurrent Multifocal Osteomyelitis |
|
Fever |
OMIM:259680 |
| Perrault Syndrome 4 |
|
Gait ataxia, Cognitive impairment, Decreased serum estradiol, Secondary amenorrhea, Premature ova... |
OMIM:615300 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Elbow flexion contr... |
OMIM:214150 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypothyroidism, Truncal ataxia, Difficulty walking, Dysphagia, Unsteady gait, Delayed menarche, T... |
ORPHA:412057 |
| Epilepsy, Juvenile Myoclonic, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:614280 |
| Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Anxiety, Myoclonic spasms, Reduced circula... |
ORPHA:79444 |
| Galactosemia |
|
Decreased fertility, Gait imbalance, Seizure, Postural tremor, Secondary amenorrhea, Premature ov... |
ORPHA:352 |
| Developmental And Epileptic Encephalopathy 110 |
|
Continuous spike and waves during slow sleep, Generalized non-motor (absence) seizure, Focal impa... |
OMIM:620149 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
| Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
| Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea |
OMIM:616946 |
| 47,Xyy Syndrome |
|
Macroorchidism, Hyperactivity, Increased serum testosterone level, Seizure, Azoospermia, Increase... |
ORPHA:8 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration |
OMIM:618958 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, Myoclonus, Status epilepticus, Clonic s... |
OMIM:610539 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination, Difficulty walking, Spastic gait, Limb tremor |
ORPHA:401820 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormality of thalamus morphology, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic... |
ORPHA:435638 |
| Partial Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Abnormal circulating estrogen level, Increased serum testosterone leve... |
ORPHA:90797 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Seizure, Abnormal testis morphology, Anxiety, Apathy, Status epilepticus, Depression, Cryptorchid... |
ORPHA:96147 |
| Ane Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... |
ORPHA:157954 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, D... |
ORPHA:163976 |
| Sheehan Syndrome |
|
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Impotence, ... |
ORPHA:91355 |
| Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure with focal onset, Focal sensory seizure with visual features, Myoc... |
OMIM:254780 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration |
ORPHA:103910 |
| Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Primary gonadal insufficiency, Primary amenorrhea, Decreased fertility, Decreased fertility in fe... |
ORPHA:90796 |
| Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa... |
ORPHA:91347 |
| Melas |
|
Hypothyroidism, Recurrent pancreatitis, EEG abnormality, Optic atrophy, Focal-onset seizure, Hypo... |
ORPHA:550 |
| Huntington Disease-Like 1 |
|
Gait ataxia, Abnormal posturing, Gait disturbance, Dysmetria, Bradykinesia |
ORPHA:157941 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Myoclonic seizure, Seizure, Multifocal epileptiform discharges, Ataxia, Bilateral tonic-clonic se... |
OMIM:615398 |
| 49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, Decreased testicular size, Azoospe... |
ORPHA:99330 |
| Dpm1-Cdg |
|
Generalized tonic seizure, Delayed myelination, Seizure, Optic atrophy, Generalized myoclonic sei... |
ORPHA:79322 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Aggressive behavior, Seizure, Inability to walk, Ataxia, Bilateral tonic-clonic seizure, Difficul... |
ORPHA:481152 |
| Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
| Prolactinoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormone deficiency... |
ORPHA:2965 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h... |
ORPHA:91354 |
| 46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Decreased serum estradiol, Secondary amenorrhea, Premature ovarian insuffici... |
ORPHA:243 |
| Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Hypogona... |
OMIM:240950 |
| Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Anxiety, Myoclonic spasms, Choreoathetosis... |
ORPHA:79443 |
| Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
| Reticular Dysgenesis |
|
Dehydration |
ORPHA:33355 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Small for gestational age, Bilateral tonic-clonic seizure |
OMIM:619278 |
| Sandhoff Disease, Infantile Form |
|
Myoclonic seizure, Exaggerated startle response, Seizure, Myoclonus, Bilateral tonic-clonic seizu... |
ORPHA:309155 |
| D-Glyceric Aciduria |
|
Seizure, Hypsarrhythmia, Myoclonus, Focal clonic seizure, Status epilepticus, Failure to thrive, ... |
OMIM:220120 |
| Developmental And Epileptic Encephalopathy 100 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Ty... |
OMIM:619777 |
| Chromosome 22Q13 Duplication Syndrome |
|
Bipolar affective disorder, Status epilepticus, Emotional lability, Impulsivity, Bilateral tonic-... |
OMIM:615538 |
| Premature Ovarian Failure 13 |
|
Elevated circulating follicle stimulating hormone level, Female infertility, Amenorrhea, Oligomen... |
OMIM:617442 |
| Bilateral Polymicrogyria |
|
Central hypothyroidism, Cerebellar ataxia associated with quadrupedal gait, Generalized-onset sei... |
ORPHA:268940 |
| 49,Xxxyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, Decreased testicular size, Male hy... |
ORPHA:261534 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... |
OMIM:228300 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Decreased circulating cortiso... |
ORPHA:95699 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Primary gonadal insufficiency, Testicular gonadoblastoma, Primary amenorrhea, Decreased fertility... |
ORPHA:251510 |
| Carnitine Deficiency, Systemic Primary |
|
Lethargy, Dehydration |
OMIM:212140 |
| Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Stillbirth |
OMIM:617468 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased fertility, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level,... |
ORPHA:289548 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormality of temperature regulation, Heat intolerance |
ORPHA:2926 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:610293 |
| Hereditary Central Diabetes Insipidus |
|
Fever, Polydipsia |
ORPHA:30925 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased fertility, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level,... |
ORPHA:168558 |
| 46,Xy Sex Reversal 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:612965 |
| Pituitary Apoplexy |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:95613 |
| Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Seizure, Retrograde ejaculation, Reduced circulating prolactin concentra... |
OMIM:223360 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Generalized tonic seizure, Seizure, Optic atrophy, Generalized myoclonic seizure, Ataxia, Compens... |
ORPHA:480864 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Small for gestational age, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges |
ORPHA:453510 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Inappropriate laughter, Bilateral tonic-clonic seizure, Delayed CNS myelination, Generalized non-... |
OMIM:615802 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... |
ORPHA:2235 |
| Familial Cold Urticaria |
|
Dehydration |
ORPHA:47045 |
| Alternating Hemiplegia Of Childhood |
|
Hyperhidrosis, Aggressive behavior, Seizure, Focal motor seizure, EEG abnormality, Abnormal auton... |
ORPHA:2131 |
| Jaberi-Elahi Syndrome |
|
Gait ataxia, Optic atrophy, Inability to walk, Choreoathetosis, Bilateral tonic-clonic seizure, T... |
OMIM:617988 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Gait disturbance, Abnormal posturing, Tip-toe gait, Inability to walk |
ORPHA:216866 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Febrile seizure (within the age range of 3 months to 6 years), Fatigable weakness, Fatigable weak... |
ORPHA:42 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Diabetes mellitus, Bilateral tonic-clonic seizure, Dementia |
OMIM:540000 |
| Ritscher-Schinzel Syndrome 4 |
|
Aggressive behavior, Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Cr... |
OMIM:619435 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Delayed CNS myelina... |
OMIM:619835 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Myoclonus, Multifocal epileptiform discharges, Status epilepticus, Failure to thrive, Bilateral t... |
OMIM:616672 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Memory impairment, Falls, Cognitive impairment, Dementia, Abnormal synaptic transm... |
ORPHA:683 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Dehydration |
OMIM:602199 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure, Inability to walk |
OMIM:615716 |
| Netherton Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Dehydration, Abnormal hair mo... |
ORPHA:634 |
| Japanese Encephalitis |
|
Abnormality of thalamus morphology, Focal motor seizure, EEG abnormality, Cognitive impairment, D... |
ORPHA:79139 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Dehydration |
OMIM:560000 |
| Developmental And Epileptic Encephalopathy 8 |
|
Tonic seizure, Exaggerated startle response, Focal impaired awareness seizure, Bilateral tonic-cl... |
OMIM:300607 |
| Propionic Acidemia |
|
Lethargy, Dehydration |
OMIM:606054 |
| Developmental And Epileptic Encephalopathy 95 |
|
Seizure, Multifocal seizures, Inability to walk, Focal-onset seizure, EEG with burst suppression,... |
OMIM:618143 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Streak ovary,... |
ORPHA:572333 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypothyroidism, Premature thelarche, Breast aplasia, Atonic seizure, Dysphagia, Aggressive behavi... |
ORPHA:268261 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Delayed myelination, Gait imbalance, Seizure, EEG abnormality, Myoclonus, Happy de... |
ORPHA:98794 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Supernumerary nipple |
OMIM:616083 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Seizure, Ab... |
ORPHA:95494 |
| X-Linked Acrogigantism |
|
