| Myoclonic Epilepsy, Hartung Type |
|
Generalized myoclonic seizure |
OMIM:159600 |
| Intellectual Developmental Disorder, X-Linked 89 |
|
Generalized myoclonic seizure |
OMIM:300848 |
| Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
| Epilepsy, Benign Occipital |
|
EEG abnormality, Seizure |
OMIM:132090 |
| Epilepsy, Reading |
|
EEG abnormality, Seizure |
OMIM:132300 |
| Specific Language Impairment 2 |
|
Deficit in phonologic short-term memory |
OMIM:606712 |
| Specific Language Impairment 1 |
|
Deficit in phonologic short-term memory |
OMIM:606711 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... |
OMIM:607628 |
| 7q11.23 duplication syndrome |
|
Short attention span |
DECIPHER:43 |
| Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
| Epilepsy, Familial Temporal Lobe, 7 |
|
Focal sensory seizure with auditory features |
OMIM:616436 |
| Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myo... |
OMIM:607631 |
| Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myoclonic se... |
OMIM:600669 |
| Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
| Epilepsy, Myoclonic Juvenile |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, EEG with gen... |
OMIM:254770 |
| Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, E... |
OMIM:609446 |
| Developmental And Epileptic Encephalopathy 94 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:615369 |
| Epilepsy, Familial Temporal Lobe, 8 |
|
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... |
OMIM:616461 |
| Epilepsy, Juvenile Myoclonic, Susceptibility To, 9 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:614280 |
| Febrile Seizures, Familial, 9 |
|
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Febrile seizure... |
OMIM:611634 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:611364 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:616685 |
| Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:600131 |
| Febrile Seizures, Familial, 8 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:607681 |
| Developmental And Epileptic Encephalopathy 19 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... |
OMIM:615744 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:616172 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... |
OMIM:604233 |
| Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:617924 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... |
OMIM:609800 |
| Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
| Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
Dementia, Cognitive impairment |
OMIM:618564 |
| Epilepsy With Eyelid Myoclonia |
|
Continuous spike and waves during slow sleep, Limb myoclonus, Generalized non-motor (absence) sei... |
ORPHA:139431 |
| Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset |
OMIM:611630 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:604403 |
| Perioral Myoclonia With Absences |
|
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Focal seizure with eyelid... |
ORPHA:139426 |
| Juvenile Myoclonic Epilepsy |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:307 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 8 |
|
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:612899 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613060 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613863 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Atypical absence seizure, Multifocal epileptiform discharges, Myoclonic absence seizure, Myocloni... |
OMIM:618596 |
| Developmental And Epileptic Encephalopathy 26 |
|
Focal impaired awareness seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizur... |
OMIM:616056 |
| Juvenile Absence Epilepsy |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:1941 |
| Benign Familial Infantile Epilepsy |
|
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... |
ORPHA:306 |
| Epilepsy, Early-Onset, 3, With Or Without Developmental Delay |
|
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:620465 |
| Epilepsy, Familial Temporal Lobe, 4 |
|
Focal aware seizure, Focal impaired awareness seizure, Focal sensory seizure with visual features |
OMIM:611631 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... |
OMIM:617831 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys... |
OMIM:254800 |
| Continuous Spikes And Waves During Sleep |
|
Myoclonic absence seizure, Continuous spike and waves during slow sleep, Typical absence seizure,... |
ORPHA:725 |
| Developmental And Epileptic Encephalopathy 57 |
|
Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Atypical absence seizure, Generalized my... |
OMIM:617771 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aw... |
OMIM:614417 |
| Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... |
OMIM:600512 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:618482 |
| Developmental And Epileptic Encephalopathy 9 |
|
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... |
OMIM:300088 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... |
OMIM:607682 |
| Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, EEG abnor... |
OMIM:617391 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... |
OMIM:618357 |
| Developmental And Epileptic Encephalopathy 31A |
|
Myoclonic seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure... |
OMIM:616346 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic absence seizure, Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Increas... |
OMIM:619000 |
| Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Hypsarrhythmia, Bilateral t... |
OMIM:616409 |
| Developmental And Epileptic Encephalopathy 13 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:614558 |
| Developmental And Epileptic Encephalopathy 67 |
|
Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Hypsarrhythmia,... |
OMIM:618141 |
| Dravet Syndrome |
|
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta... |
OMIM:607208 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absenc... |
ORPHA:79137 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... |
OMIM:601068 |
| Developmental And Epileptic Encephalopathy 43 |
|
Myoclonic seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, Atonic seizu... |
OMIM:617113 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Absence seizure with... |
OMIM:618587 |
| Developmental And Epileptic Encephalopathy 56 |
|
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, EEG with polyspike wave comp... |
OMIM:617665 |
| Lissencephaly 10 |
|
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:618873 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Episodic Ataxia, Type 5 |
|
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), EEG with ... |
OMIM:613855 |
| Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... |
OMIM:618396 |
| Lennox-Gastaut Syndrome |
|
EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Generalized tonic seizure, EEG a... |
ORPHA:2382 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Generalized-onset seizure, Focal sensory seizure, Infantile spasms, Focal-onset seizure, Normal i... |
OMIM:602066 |
| Developmental And Epileptic Encephalopathy 108 |
|
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... |
OMIM:620115 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Atonic seizure, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus... |
OMIM:614018 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu... |
OMIM:619157 |
| Landau-Kleffner Syndrome |
|
EEG with frontal focal spikes, Non-convulsive status epilepticus without coma, EEG with generaliz... |
ORPHA:98818 |
| Developmental And Epileptic Encephalopathy 24 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... |
OMIM:615871 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:101039 |
| Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Bilateral tonic-clonic seizure, Myoclonic absence seizure, EEG abnormality, Seizure |
OMIM:612621 |
| Myoclonic Epilepsy Of Infancy |
|
EEG with irregular generalized spike and wave complexes, Generalized non-motor (absence) seizure,... |
ORPHA:86909 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Generalized-onset seizure, Myoclonus, Focal-onset seizure, EEG abnormality |
ORPHA:86814 |
| Seizures, Benign Familial Infantile, 5 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:617080 |
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
| Nodular Neuronal Heterotopia |
|
EEG abnormality, Seizure |
ORPHA:2149 |
| Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
| Developmental And Epileptic Encephalopathy 60 |
|
Myoclonic seizure, Seizure, Epileptic spasm, EEG with burst suppression, Tonic seizure, Hypsarrhy... |
OMIM:617929 |
| Developmental And Epileptic Encephalopathy 112 |
|
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... |
OMIM:620537 |
| Benign Occipital Epilepsy |
|
EEG with occipital focal spike waves, Focal impaired awareness seizure |
ORPHA:25968 |
| Developmental Delay With Or Without Epilepsy |
|
EEG with frontal focal spikes, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... |
OMIM:620540 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Focal sensory seizure with visual features, Myoclonus, Bilateral tonic-clonic seizure, Interictal... |
OMIM:615400 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, EEG with generalized epileptiform discharges, Generalized non-motor (a... |
ORPHA:35878 |
| Developmental And Epileptic Encephalopathy 104 |
|
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilate... |
OMIM:619970 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... |
ORPHA:36387 |
| Myoclonic-Atonic Epilepsy |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Eyelid myoclonus, Gen... |
OMIM:616421 |
| Carnosinase Deficiency |
|
EEG abnormality, Generalized myoclonic seizure |
ORPHA:1361 |
| Epilepsy, Familial Temporal Lobe, 6 |
|
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... |
OMIM:615697 |
| Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... |
ORPHA:101046 |
| Seizures, Benign Familial Infantile, 2 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... |
OMIM:605751 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Rolandic Epilepsy |
|
EEG with irregular generalized spike and wave complexes, EEG with centrotemporal focal spike wave... |
ORPHA:1945 |
| Developmental And Epileptic Encephalopathy 99 |
|
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... |
OMIM:619606 |
| Seizures, Benign Familial Infantile, 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... |
OMIM:601764 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Pyridoxine-Dependent Epilepsy |
|
Focal aware motor seizure, EEG with generalized epileptiform discharges, Focal myoclonic seizure,... |
ORPHA:3006 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Enhanceme... |
OMIM:615127 |
| Developmental And Epileptic Encephalopathy 52 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,... |
OMIM:617350 |
| Developmental And Epileptic Encephalopathy 18 |
|
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... |
OMIM:615476 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
| Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:121210 |
| Febrile Seizures, Familial, 5 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:609255 |
| Febrile Seizures, Familial, 6 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:609253 |
| Febrile Seizures, Familial, 4 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:604352 |
| Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... |
OMIM:619317 |
| Developmental And Epileptic Encephalopathy 91 |
|
Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-cloni... |
OMIM:617711 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
EEG abnormality, Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic... |
OMIM:617836 |
| Developmental And Epileptic Encephalopathy 103 |
|
Myoclonic seizure, Continuous spike and waves during slow sleep, Generalized non-motor (absence) ... |
OMIM:619913 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... |
OMIM:608096 |
| Seizures, Benign Familial Infantile, 3 |
|
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... |
OMIM:607745 |
| Dravet Syndrome |
|
Epilepsia partialis continua, EEG with generalized epileptiform discharges, Focal impaired awaren... |
ORPHA:33069 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, EEG abnormality,... |
OMIM:271980 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Familial Focal Epilepsy With Variable Foci |
|
Interictal EEG abnormality, Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizur... |
ORPHA:98820 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Chorioretinal degeneration, Hyperactivity |
OMIM:616311 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, Seizure,... |
OMIM:245570 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
| Stxbp1-Related Encephalopathy |
|
EEG with abnormally slow frequencies, Generalized myoclonic seizure, Focal impaired awareness sei... |
ORPHA:599373 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, EEG abnormality, Bilateral tonic-clon... |
OMIM:617810 |
| Benign Familial Neonatal Epilepsy |
|
Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal EEG discharges with secondary ge... |
ORPHA:1949 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... |
OMIM:619338 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Generalized non-motor (absence) seizure, Seizure |
OMIM:613886 |
| Febrile Seizures, Familial, 11 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... |
OMIM:614418 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Myoclonus, Bilateral tonic-clon... |
ORPHA:2590 |
| Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Focal motor seizure, Generalized non-motor (absence) seizure |
OMIM:615553 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... |
OMIM:605670 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Isolated Focal Cortical Dysplasia |
|
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... |
ORPHA:65683 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Developmental And Epileptic Encephalopathy 109 |
|
Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, B... |
OMIM:620145 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... |
ORPHA:59181 |
| Infantile Convulsions And Choreoathetosis |
|
Seizure, Complex febrile seizure, Focal-onset seizure, Focal impaired awareness autonomic seizure... |
ORPHA:31709 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Generalized non-motor (absence) seizure, Atonic seizure |
OMIM:610293 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Generalized tonic seizure, ... |
ORPHA:411986 |
| Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ... |
OMIM:619616 |
| Bilateral Frontoparietal Polymicrogyria |
|
Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s... |
ORPHA:101070 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:247100 |
| Myoclonic-Astatic Epilepsy |
|
EEG with irregular generalized spike and wave complexes, Atonic seizure, Generalized non-motor (a... |
ORPHA:1942 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Generalized non-motor (absence) seizure, Seizure |
ORPHA:98811 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
| Morm Syndrome |
|
Aggressive behavior, Retinal atrophy, Hyperactivity, Retinal dystrophy |
ORPHA:75858 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Macular Degeneration, Age-Related, 1 |
|
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... |
OMIM:603075 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Typical absence seizure, Seizure, EEG with generalized slow activity, Abnormal... |
ORPHA:168491 |
| Bilateral Generalized Polymicrogyria |
|
Generalized myoclonic seizure, Typical absence seizure, Generalized-onset seizure, Infantile spas... |
ORPHA:208447 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Focal tonic seizur... |
ORPHA:485350 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Focal im... |
OMIM:619428 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Developmental And Epileptic Encephalopathy 28 |
|
Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epileptic spasm, Generali... |
OMIM:616211 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized non-motor ... |
OMIM:619854 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Retinopath... |
ORPHA:251380 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Childhood Absence Epilepsy |
|
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, EEG with spike-wave complexes... |
ORPHA:64280 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:616033 |
| Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure |
OMIM:616281 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Generalized non-motor (absence) seizure |
OMIM:618242 |
| Retinitis Pigmentosa 50 |
|
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:615637 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Focal impaired awareness seizure, Generalized non-motor (absence) seizure |
OMIM:616521 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
| Developmental And Epileptic Encephalopathy 110 |
|
Continuous spike and waves during slow sleep, Focal impaired awareness hemiclonic seizure, Genera... |
OMIM:620149 |
| Lafora Disease |
|
Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ... |
ORPHA:501 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Optic disc pallor, Retinal thinning |
OMIM:618970 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Generalized-onset seizure, Interictal... |
OMIM:620166 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Focal impaired awareness seizure |
OMIM:616193 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, EEG abnormality, Bilateral tonic-... |
ORPHA:98795 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
EEG abnormality, Generalized non-motor (absence) seizure |
OMIM:300801 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis |
OMIM:618858 |
| D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia |
ORPHA:941 |
| Lissencephaly Due To Lis1 Mutation |
|
Focal impaired awareness seizure, Seizure, Infantile spasms, EEG with spike-wave complexes, EEG w... |
ORPHA:95232 |
| Intellectual Developmental Disorder, Autosomal Recessive 57 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... |
OMIM:617188 |
| Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes |
OMIM:610582 |
| New-Onset Refractory Status Epilepticus |
|
Focal aware motor seizure, Focal autonomic seizure, EEG with frontal epileptiform discharges, Myo... |
ORPHA:363558 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ... |
OMIM:616329 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Bilateral tonic-clonic seizure, Multifocal seizures, Seizure, Generalized non-motor (absence) sei... |
OMIM:618170 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Pigme... |
ORPHA:71212 |
| Hyperekplexia-Epilepsy Syndrome |
|
Generalized tonic seizure, EEG with temporal focal spikes, Focal impaired awareness seizure |
ORPHA:163985 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Hyperprolinemia Type 2 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... |
ORPHA:79101 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure |
OMIM:300558 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic sei... |
OMIM:617600 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c |
OMIM:606176 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Periventricular Nodular Heterotopia 7 |
|
Infantile spasms, Hypsarrhythmia, Seizure, Generalized non-motor (absence) seizure |
OMIM:617201 |
| Myoclonic Epilepsy Of Lafora 1 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... |
OMIM:254780 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se... |
OMIM:619835 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity |
OMIM:300928 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Tubulinopathy-Associated Dysgyria |
|
Infantile spasms, Startle-induced seizure, Generalized non-motor (absence) seizure |
ORPHA:467166 |
| Liang-Wang Syndrome |
|
Status epilepticus, Generalized non-motor (absence) seizure |
OMIM:618729 |
| Intellectual Developmental Disorder, Autosomal Dominant 74 |
|
Typical absence seizure, Bilateral tonic-clonic seizure |
OMIM:620688 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Attenuation of retina... |
OMIM:616959 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Nicolaides-Baraitser Syndrome |
|
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure |
ORPHA:3051 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous |
OMIM:193230 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Myoclonic absence seizure, Eating-induced seizure |
ORPHA:544254 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia |
OMIM:605911 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration |
OMIM:520000 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Typical absence seizure, Seizure |
ORPHA:576283 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:619470 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Focal hemiclonic seizure, Hypsarrhythmia, EEG with generalized epileptiform discharges, Generaliz... |
OMIM:616973 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, EEG with frontal sharp slow w... |
ORPHA:457351 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Polydipsia, Diabetes mellitus, Polyphagia |
OMIM:222100 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Absence seizure with eyelid myoclonia, Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:613839 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Early Infantile Epileptic Encephalopathy |
|
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... |
ORPHA:1934 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:2457 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Houge-Janssens Syndrome 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:618354 |
| Harel-Yoon Syndrome |
|
Generalized non-motor (absence) seizure |
OMIM:617183 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Focal myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Myoclonus, Focal-onset... |
OMIM:619229 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... |
ORPHA:26793 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Hyperglycemia, Attenuation of retinal blood vessels, Retinal degeneration, Polyphagia... |
OMIM:615986 |
| Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:301091 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Myoclonic absence seizure, Seizure |
OMIM:616034 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu... |
OMIM:615398 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level |
OMIM:610768 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Generalized non-motor (absence) seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilater... |
OMIM:300912 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Retinal degeneration, Decreased LDL... |
OMIM:615558 |
| Mody |
|
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Glucose ... |
ORPHA:552 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, EEG abnormality, Generalized non-motor (absence) seizure, Febrile... |
OMIM:617798 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Status epilepticus, Tonic seizure, Seizure, Generalized non-motor (absence) seizure |
OMIM:300260 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... |
OMIM:614207 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Atonic ... |
ORPHA:79351 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Continuous spike and waves during slow sleep, Seizure, Generalized non-motor (absence) seizure, I... |
OMIM:620224 |
| Angelman Syndrome |
|
Seizure, Infantile spasms, Myoclonus, EEG abnormality, Atonic seizure, Atypical absence seizure, ... |
ORPHA:72 |
| Developmental And Epileptic Encephalopathy 100 |
|
Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m... |
OMIM:619777 |
| Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:612337 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:363686 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic sei... |
ORPHA:395 |
| 3P25.3 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
ORPHA:435638 |
| Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:848 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure |
OMIM:615802 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Dpm1-Cdg |
|
Seizure, Early onset absence seizures, Generalized tonic seizure, Atonic seizure, Generalized myo... |
ORPHA:79322 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure |
ORPHA:96147 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:617360 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
EEG with generalized sharp slow waves, Generalized non-motor (absence) seizure, EEG with spike-wa... |
ORPHA:369837 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of visual evoked potentials, Seizure, Generalized non-motor (absence) seizure, Focal-... |
ORPHA:258 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, EEG abnormality, Focal toni... |
ORPHA:404454 |
| Progressive Supranuclear Palsy |
|
Dementia, Memory impairment, Cognitive impairment, Abnormal synaptic transmission |
ORPHA:683 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... |
ORPHA:231222 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Weaver Syndrome |
|
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure |
OMIM:277590 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Self-injurious behavior, Recurrent hand flapping, Persistence of hemoglobin F |
OMIM:617101 |
| Ziegler-Huang Syndrome |
|
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Tay-Sachs Disease |
|
Myoclonus, Typical absence seizure, Focal impaired awareness seizure, Seizure |
ORPHA:845 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Infantile s... |
OMIM:620455 |
| Kinsship Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Focal-onset seizure, Generalized non-motor (absence) s... |
OMIM:619297 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Typical absence seizure, Seizure |
OMIM:618343 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure... |
ORPHA:466943 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231214 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:293978 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin |
ORPHA:98791 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure |
ORPHA:466950 |
| Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anorexia, Attention deficit hyperactivity disorder, Abnormal T c... |
ORPHA:330015 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure... |
ORPHA:513456 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Optic atrophy, Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:268261 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Phonic tics, Optic atrophy, Pigmentary retinopathy, Acanthocytosis, Obsessive-compulsive trait, R... |
OMIM:234200 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure |
ORPHA:2636 |
| Helsmoortel-Van Der Aa Syndrome |
|
Tonic seizure, Typical absence seizure, Seizure |
OMIM:615873 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Typical absence seizure, Seizure |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Typical absence seizure, Seizure |
ORPHA:352665 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Febri... |
OMIM:620330 |
| Thymoma |
|
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Motor stereotypy, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure |
OMIM:612474 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Typical absence seizure, Focal-onset seizure, Atonic seizure |
OMIM:617157 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:500150 |
| Carpenter Syndrome 2 |
|
Generalized non-motor (absence) seizure |
OMIM:614976 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Generalized non-motor (absence) seizure |
ORPHA:77293 |
| Sotos Syndrome |
|
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-... |
ORPHA:821 |
| Mowat-Wilson Syndrome |
|
Seizure, EEG with spike-wave complexes, Focal-onset seizure, EEG with generalized slow activity, ... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Atypical absence seizure, Focal-onset seizure, Seizure, EEG abnormality |
ORPHA:261537 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Atypical absence seizure, Focal-onset seizure, Seizure, EEG abnormality |
ORPHA:261552 |
| Alkaptonuria |
|
Methemoglobinemia, Hemolytic anemia |
ORPHA:56 |
| Alström Syndrome |
|
Typical absence seizure |
ORPHA:64 |
