Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... |
OMIM:615400 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... |
OMIM:600512 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:608762 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... |
OMIM:614417 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Depression, Attention deficit hyperactivity disorder |
OMIM:613003 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus, Bilateral tonic-clonic seizure, Seizure |
OMIM:615127 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Intention tremor, Bilateral tonic-clonic seizure |
OMIM:617863 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:619964 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure |
OMIM:617080 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:611364 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... |
OMIM:616461 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset |
OMIM:611630 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
ORPHA:22 |
Developmental And Epileptic Encephalopathy 9 |
|
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... |
OMIM:300088 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... |
OMIM:254770 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... |
OMIM:604403 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:616685 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:616172 |
Centralopathic Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Focal-onset seizure |
OMIM:117100 |
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 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... |
OMIM:613863 |
Myoclonic Epilepsy, Familial Infantile |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:605021 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
Developmental And Epileptic Encephalopathy 104 |
|
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... |
OMIM:619970 |
Seizures, Benign Familial Neonatal, 1 |
|
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... |
OMIM:121200 |
Developmental And Epileptic Encephalopathy 11 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:613721 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... |
OMIM:607628 |
Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... |
OMIM:600669 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Focal impaired awareness seizure, Focal aware seizure, Febrile status epilepticus, Febrile seizur... |
OMIM:608096 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:613060 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Status epilepticus, Focal impaired awareness seizure, Focal aware seizure, Bilateral tonic-clonic... |
OMIM:615697 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... |
OMIM:618357 |
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 |
Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Tremor, Bilat... |
OMIM:617831 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Developmental And Epileptic Encephalopathy 26 |
|
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... |
OMIM:616056 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... |
OMIM:607631 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Developmental And Epileptic Encephalopathy 94 |
|
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Febrile seizure... |
OMIM:615369 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:601068 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
|
Bilateral tonic-clonic seizure |
OMIM:269720 |
Benign Familial Infantile Epilepsy |
|
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... |
ORPHA:306 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:613608 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Episodic Ataxia, Type 9 |
|
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Dystonia |
OMIM:618924 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Dravet Syndrome |
|
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, G... |
OMIM:607208 |
Perioral Myoclonia With Absences |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
ORPHA:139426 |
Juvenile Absence Epilepsy |
|
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... |
ORPHA:1941 |
Dystonia 11, Myoclonic |
|
Torticollis, Agoraphobia, Depression, Anxiety, Tremor, Writer's cramp |
OMIM:159900 |
Developmental And Epileptic Encephalopathy 24 |
|
Status epilepticus, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age range of 3... |
OMIM:615871 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Hyperlysinemia, Type I |
|
Anemia, Hyperactivity |
OMIM:238700 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Tremor, Bilateral tonic-clonic seizure, Dystonia |
OMIM:618425 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Bilater... |
ORPHA:101046 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Depression, Anxiety, Panic attack, Writer's cramp, Personality disorder, Dystonia |
ORPHA:36899 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Continuous Spikes And Waves During Sleep |
|
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... |
ORPHA:725 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... |
OMIM:231200 |
Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Dystonia |
OMIM:104290 |
Developmental And Epileptic Encephalopathy 27 |
|
Myoclonus, Infantile spasms, Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure, ... |
OMIM:616139 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Chorea, Separation ... |
ORPHA:66624 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonus, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure |
OMIM:162350 |
Myh9-Related Disease |
|
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... |
ORPHA:182050 |
Developmental And Epileptic Encephalopathy 13 |
|
Clonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure with foca... |
OMIM:614558 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... |
OMIM:607682 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... |
OMIM:618587 |
Epilepsy, Progressive Myoclonic, 6 |
|
Atonic seizure, Myoclonus, Tremor, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, ... |
OMIM:614018 |
Female Restricted Epilepsy With Intellectual Disability |
|
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... |
ORPHA:101039 |
Epilepsy, Pyridoxine-Dependent |
|
Status epilepticus, Bilateral tonic-clonic seizure, Clonic seizure, Generalized myoclonic seizure |
OMIM:266100 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Bilateral tonic-clonic seizure, Dystonia |
ORPHA:139406 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:609446 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset... |
OMIM:245570 |
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Fechtner syndrome |
|
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets |
OMIM:153640 |
Seizures, Benign Familial Infantile, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... |
OMIM:601764 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Clonic seizure, Focal impaired awareness seizure, Simple febrile seizure, Bilateral tonic-clonic ... |
OMIM:617935 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizu... |
OMIM:619157 |
Developmental And Epileptic Encephalopathy 33 |
|
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Seizure |
OMIM:616409 |
Lissencephaly 10 |
|
Torticollis, Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Tonic se... |
OMIM:618873 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Anxiety, Attention deficit hyperactivity disorder |
OMIM:619191 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Cortical Malformations, Occipital |
|
Bilateral tonic-clonic seizure |
OMIM:614115 |
Huntington Disease-Like 2 |
|
Apathy, Action tremor, Depression, Anxiety, Chorea, Dystonia, Irritability |
OMIM:606438 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Status epilepticus wit... |
ORPHA:363549 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Status epilepticus, Focal impaired awareness seizure, Generalized myoclonic seizure, Oculogyric c... |
ORPHA:330050 |
Developmental And Epileptic Encephalopathy 43 |
|
Atypical absence seizure, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-cl... |
OMIM:617113 |
Lennox-Gastaut Syndrome |
|
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... |
ORPHA:2382 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Hyperactivity, Self-injurious behavior, Chorea, Athetosis, Aggressive behavior, Dystonia |
ORPHA:382 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure |
OMIM:612621 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor symptoms, F... |
OMIM:204300 |
Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure |
OMIM:616341 |
Unilateral Hemispheric Polymicrogyria |
|
Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seiz... |
ORPHA:101071 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Status epilepticus, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizu... |
ORPHA:36387 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:601217 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Aggressive behavior, Dystonia |
OMIM:612716 |
Familial Focal Epilepsy With Variable Foci |
|
Focal impaired awareness seizure, Deja vu aura, Focal aware seizure, Nocturnal seizures, Infantil... |
ORPHA:98820 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:610003 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Generalized myoclonic seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonic absence seizure,... |
OMIM:617836 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, Aggressive behavio... |
ORPHA:3077 |
Epilepsy, Progressive Myoclonic, 8 |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Action myoclonus, Myoclonus |
OMIM:616230 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Ataxia, Hyperactivity, Aggressive behavior |
OMIM:300983 |
Juvenile Huntington Disease |
|
Ataxia, Progressive cerebellar ataxia, Hyperactivity, Depression, Chorea, Gait ataxia, Dystonia, ... |
ORPHA:248111 |
Developmental And Epileptic Encephalopathy 6B |
|
Focal hemiclonic seizure, Tonic seizure, Myoclonus, Myoclonic seizure, Epileptic spasm, Choreoath... |
OMIM:619317 |
Developmental And Epileptic Encephalopathy 98 |
|
Clonic seizure, Bilateral tonic-clonic seizure with focal onset, Refractory status epilepticus, B... |
OMIM:619605 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Bilateral tonic-clonic seizure, Atonic seizure, Seizure |
OMIM:309530 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Impulsivity, Hyperactivity, Aggressive behavior |
OMIM:604317 |
Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure |
OMIM:617709 |
Myoclonic Epilepsy Of Infancy |
|
Generalized myoclonic seizure, Myoclonus, Febrile seizure (within the age range of 3 months to 6 ... |
ORPHA:86909 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:254800 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly |
OMIM:153670 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Hyperprolinemia, Type I |
|
Ataxia, Hyperactivity, Aggressive behavior |
OMIM:239500 |
Pontocerebellar Hypoplasia, Type 14 |
|
Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Dystonia |
OMIM:619301 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure |
OMIM:619639 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Developmental And Epileptic Encephalopathy 99 |
|
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... |
OMIM:619606 |
Episodic Ataxia, Type 5 |
|
Typical absence seizure, Atypical absence seizure, Myoclonus, Febrile seizure (within the age ran... |
OMIM:613855 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Hyperactivity, Aggressive behavior |
OMIM:619470 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Ataxia, Hyperactivity, Dystonia |
OMIM:615924 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Dystonia |
ORPHA:53583 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Hyperactivity, Dysmetria |
OMIM:618090 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... |
OMIM:210250 |
Developmental And Epileptic Encephalopathy 37 |
|
Focal hemiclonic seizure, Myoclonus, Bilateral tonic-clonic seizure, Choreoathetosis, Multifocal ... |
OMIM:616981 |
Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Aggressive behavior, Irritability |
OMIM:605899 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:79137 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Aggressive behavior |
OMIM:309548 |
Phenylketonuria |
|
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... |
OMIM:261600 |
Fraxe Intellectual Disability |
|
Impulsivity, Hyperactivity, Aggressive behavior |
ORPHA:100973 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... |
OMIM:619338 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
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Status epilepticus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Seizure, Dy... |
OMIM:613970 |
Pontocerebellar Hypoplasia, Type 15 |
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Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Dystonia |
OMIM:619302 |
Chromosome 3Q29 Deletion Syndrome |
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Gait ataxia, Hyperactivity, Anxiety, Aggressive behavior |
OMIM:609425 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
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Impulsivity, Hyperactivity, Depression, Chorea, Dystonia |
ORPHA:88616 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
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Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absen... |
OMIM:619616 |
Landau-Kleffner Syndrome |
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Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Focal motor seiz... |
ORPHA:98818 |
Dystonia 26, Myoclonic |
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Torticollis, Blepharospasm, Laryngeal dystonia, Depression, Anxiety, Dystonia |
OMIM:616398 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
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Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Focal impaired ... |
ORPHA:178469 |
Cerebral Creatine Deficiency Syndrome 2 |
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Atonic seizure, Myoclonus, Tremor, Febrile seizure (within the age range of 3 months to 6 years),... |
OMIM:612736 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
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Myoclonus, Bilateral tonic-clonic seizure, Dystonia |
OMIM:619065 |
Bleeding Disorder, Platelet-Type, 19 |
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Anemia, Macrothrombocytopenia |
OMIM:616176 |
Morm Syndrome |
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Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Autosomal Recessive Frontotemporal Pachygyria |
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Bilateral tonic-clonic seizure, Seizure |
ORPHA:329329 |
Progressive Myoclonic Epilepsy Type 3 |
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Myoclonus, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilater... |
ORPHA:263516 |
Pyridoxine-Dependent Epilepsy |
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Status epilepticus, Atonic seizure, Early onset absence seizures, Focal aware motor seizure, Epil... |
ORPHA:3006 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
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Focal motor seizure, Resting tremor, Bilateral tonic-clonic seizure, Seizure, Postural tremor, Dy... |
OMIM:619911 |
Developmental And Epileptic Encephalopathy 102 |
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Focal motor status epilepticus, Tonic seizure, Generalized myoclonic seizure, Bilateral tonic-clo... |
OMIM:619881 |
Takenouchi-Kosaki Syndrome |
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Increased mean platelet volume, Ataxia, Thrombocytopenia |
OMIM:616737 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
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Clonic seizure, Tonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:618917 |
Bilateral Generalized Polymicrogyria |
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Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Generalized myo... |
ORPHA:208447 |
Mannosidosis, Beta A, Lysosomal |
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Hyperactivity, Aggressive behavior |
OMIM:248510 |
Developmental And Epileptic Encephalopathy 103 |
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Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Tonic seizure, Opisth... |
OMIM:619913 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:618856 |
Coffin-Siris Syndrome 8 |
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Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Alpers-Huttenlocher Syndrome |
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Bilateral tonic-clonic seizure, Myoclonus, Choreoathetosis, Focal-onset seizure |
ORPHA:726 |
Bernard-Soulier Syndrome |
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Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... |
ORPHA:274 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Tremor, Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter |
OMIM:618718 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
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Atonic seizure, Myoclonic seizure, Tremor, Bilateral tonic-clonic seizure, Generalized non-motor ... |
OMIM:617810 |
Developmental And Epileptic Encephalopathy 4 |
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Status epilepticus, Generalized myoclonic seizure, Generalized tonic seizure, Epileptic spasm, Tr... |
OMIM:612164 |
Glycogen Storage Disease 0, Muscle |
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Bilateral tonic-clonic seizure |
OMIM:611556 |
Familial Infantile Myoclonic Epilepsy |
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Bilateral tonic-clonic seizure with generalized onset, Blepharospasm, Generalized myoclonic seizu... |
ORPHA:352582 |
Autosomal Dominant Spastic Paraplegia Type 6 |
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Postural tremor, Bilateral tonic-clonic seizure |
ORPHA:100988 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
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Hyperactivity, Impulsivity, Chorea, Gait ataxia, Aggressive behavior, Impaired pain sensation, Dy... |
ORPHA:500180 |
Xq25 Microduplication Syndrome |
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Anxiety, Hyperactivity |
ORPHA:521258 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Attention deficit hyperactivity disorder, Bipolar affective disorder, Hyperactivity |
OMIM:619927 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Succinic Semialdehyde Dehydrogenase Deficiency |
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Ataxia, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior |
OMIM:271980 |
Thrombocytopenia 3 |
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Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
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Bilateral tonic-clonic seizure |
OMIM:301076 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Self-injurious behavior, Hyperactivity, Inappropriate behavior, Self-biting, Nail-biting, Attenti... |
OMIM:619827 |
Mercaptolactate-Cysteine Disulfiduria |
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Bilateral tonic-clonic seizure |
OMIM:249650 |
Storage Pool Platelet Disease |
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Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Bilateral tonic-clonic seizure, Infantile spasms, Seizure |
ORPHA:250972 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
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Self-injurious behavior, Hyperactivity, Depression, Anxiety, Aggressive behavior |
OMIM:619467 |
Developmental And Epileptic Encephalopathy 106 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure |
OMIM:620028 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
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Hyperactivity, Self-injurious behavior, Progressive cerebellar ataxia, Depression, Anxiety, Chore... |
ORPHA:485350 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
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Generalized tonic seizure, Myoclonus, Epileptic spasm, Febrile seizure (within the age range of 3... |
ORPHA:289266 |
Cln5 Disease |
|
Ataxia, Hyperactivity, Dysmetria, Dysdiadochokinesis, Anxiety, Truncal ataxia, Tremor, Aggressive... |
ORPHA:228360 |
Epilepsy, Familial Adult Myoclonic, 2 |
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Tremor, Myoclonus, Bilateral tonic-clonic seizure, Blepharospasm |
OMIM:607876 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Happy demeanor, Ataxia, Hyperactivity, Inappropriate laughter |
ORPHA:411515 |
New-Onset Refractory Status Epilepticus |
|
Status epilepticus, Focal impaired awareness seizure, Focal aware motor seizure, Bilateral tonic-... |
ORPHA:363558 |
Lathosterolosis |
|
Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Increased mean platelet ... |
OMIM:607330 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:301013 |
Congenital Disorder Of Glycosylation, Type Iif |
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Ataxia, Macrothrombocytopenia, Neutropenia, Thrombocytopenia, Decreased platelet glycoprotein Ib |
OMIM:603585 |
Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Thrombocytosis, Splenomegaly |
OMIM:222470 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Thrombocytopenia 1 |
|
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume |
OMIM:313900 |
Syndromic Diarrhea |
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Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Thrombocytosis |
ORPHA:84064 |
Epilepsy, Early-Onset, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence)... |
OMIM:619854 |
Spastic Ataxia 5, Autosomal Recessive |
|
Myoclonus, Bilateral tonic-clonic seizure, Dystonia, Generalized myoclonic seizure |
OMIM:614487 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Increased mean platelet volume, Thrombocytopenia |
ORPHA:487796 |
X-Linked Creatine Transporter Deficiency |
|
Ataxia, Hyperactivity, Self-mutilation, Chorea, Athetosis, Dystonia |
ORPHA:52503 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Intention tremor, Myoclonus, Nocturnal seizures, Bilateral tonic-clonic seizure, ... |
OMIM:619725 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
Chromosome Xq13 Duplication Syndrome |
|
Hyperactivity, Anxiety, Autoimmune thrombocytopenia, Attention deficit hyperactivity disorder, Ag... |
OMIM:301069 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Dysmetria, Intention tremor, Dysdiadochokinesis, Chorea, Gait ataxia,... |
OMIM:610217 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Ataxia, Hyperactivity, Impulsivity, Anxiety, Aggressive behavior, Dystonia |
OMIM:616977 |
Adenylosuccinase Deficiency |
|
Happy demeanor, Hyperactivity, Opisthotonus, Self-mutilation, Gait ataxia, Aggressive behavior, I... |
OMIM:103050 |
Myoclonic Epilepsy Of Lafora |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Focal ... |
OMIM:254780 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Chorea |
OMIM:617600 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... |
OMIM:600903 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Impulsivity, Hyperactivity |
OMIM:300143 |
X-Linked Adrenoleukodystrophy |
|
Inappropriate sexual behavior, Hyperactivity, Somatic sensory dysfunction, Attention deficit hype... |
ORPHA:43 |
Lafora Disease |
|
Status epilepticus, Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal impaired a... |
ORPHA:501 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Bilateral tonic-clonic seizure |
OMIM:619278 |
3-Methylglutaconic Aciduria, Type Viia |
|
Atypical absence seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized-onset se... |
OMIM:619835 |
Wiskott-Aldrich Syndrome |
|
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... |
OMIM:301000 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Lymphopenia |
ORPHA:391307 |
Purine Nucleoside Phosphorylase Deficiency |
|
Ataxia, Hyperactivity, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abn... |
ORPHA:760 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... |
ORPHA:449291 |
Pitt-Hopkins-Like Syndrome 1 |
|
Ataxia, Hyperactivity, Aggressive behavior |
OMIM:610042 |
Childhood Absence Epilepsy |
|
Typical absence seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:64280 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Choreoacanthocytosis |
|
Laryngeal dystonia, Chorea, Limb dystonia, Emotional lability, Hyperactivity, Self-injurious beha... |
ORPHA:2388 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Ataxia, Hyperactivity, Emotional lability |
OMIM:620047 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Emotional lability, Pain insensitivity, Hyperactivity, Self-mutilation |
OMIM:256800 |
Early Infantile Epileptic Encephalopathy |
|
Atonic seizure, Generalized tonic seizure, Myoclonus, Infantile spasms, Tremor, Febrile seizure (... |
ORPHA:1934 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Blepharospasm, Hyperactivity, Depression, Acanthocytosis, Tremor, Choreoathetosis, Dystonia |
OMIM:234200 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hand tremor |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hand tremor |
ORPHA:424 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Pain insensitivity, Hyperactivity, Impulsivity, Trophic limb changes, Self-mutilation, Abnormal e... |
ORPHA:642 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Status epilepticus, Seizure |
OMIM:618922 |