Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure |
OMIM:611364 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... |
OMIM:619964 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... |
OMIM:614417 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... |
OMIM:601068 |
Centralopathic Epilepsy |
|
Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi... |
OMIM:117100 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... |
OMIM:615127 |
Epilepsy, Myoclonic Juvenile |
|
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... |
OMIM:254770 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure, Aggressive behavior |
OMIM:603204 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... |
OMIM:619970 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Focal-onset seizure, EEG with ph... |
OMIM:613608 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Spastic Paraplegia 24, Autosomal Recessive |
|
Spasticity, Spastic paraplegia, Clonus, Tip-toe gait |
OMIM:607584 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:300088 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:617643 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:607681 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Early-Onset Generalized Limb-Onset Dystonia |
|
Hypertonia, Gait disturbance |
ORPHA:256 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... |
OMIM:615369 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... |
OMIM:615006 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Focal sensory seizure with visual features, Focal impaired awaren... |
OMIM:615400 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
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 |
Developmental And Epileptic Encephalopathy 12 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythmia |
OMIM:613722 |
Cortical Malformations, Occipital |
|
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Impulsivity, Myoclonic seizure, ... |
OMIM:617113 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:22 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... |
OMIM:618357 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... |
ORPHA:101039 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Seizures, Benign Familial Infantile, 3 |
|
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... |
OMIM:607745 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Juvenile Absence Epilepsy |
|
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... |
ORPHA:1941 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:619639 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... |
OMIM:608105 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Autosomal Recessive Spastic Paraplegia Type 24 |
|
Clonus, Spastic paraplegia, Scissor gait, Tip-toe gait, Spasticity |
ORPHA:101004 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus, Agitation, Abnormal repe... |
OMIM:617171 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:254800 |
Epilepsy, Progressive Myoclonic 7 |
|
Bilateral tonic-clonic seizure, Myoclonus, EEG with generalized epileptiform discharges, Myocloni... |
OMIM:616187 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with focal sharp waves,... |
ORPHA:163721 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder |
OMIM:607417 |
Continuous Spikes And Waves During Sleep |
|
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic seizure, Focal-... |
ORPHA:725 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Seizure, Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... |
OMIM:615871 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Spinocerebellar Ataxia 37 |
|
Tremor, Unsteady gait, Frequent falls, Ataxia |
OMIM:615945 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, EEG abnormality, Myoclonus, Atypical abse... |
OMIM:617391 |
Polymicrogyria, Bilateral Temporooccipital |
|
Focal impaired awareness seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal o... |
OMIM:612691 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:245570 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking |
ORPHA:85292 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Clonic seizure, EEG with burst suppression, Status epilepticus, G... |
OMIM:266100 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Generalized non-motor (... |
OMIM:619157 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus |
OMIM:613721 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... |
OMIM:617831 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, EEG with spike-wave complexes,... |
OMIM:607682 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Self-injurious behavior, Athe... |
ORPHA:382 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines |
OMIM:301076 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Seizure, Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Alternating Hemiplegia Of Childhood 1 |
|
Choreoathetosis, Bilateral tonic-clonic seizure, Dystonia |
OMIM:104290 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Myoclonu... |
ORPHA:2382 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Broad-based gait, Truncal ataxia, Gait ataxia |
OMIM:601238 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... |
OMIM:617389 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... |
OMIM:616346 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Seizures, Benign Familial Infantile, 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... |
OMIM:601764 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Bilateral tonic-clonic seizure, Seizure, Abnormal repetitive mannerisms, In... |
OMIM:608636 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... |
OMIM:609446 |
Familial Focal Epilepsy With Variable Foci |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... |
ORPHA:98820 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... |
ORPHA:101071 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Intention tremor |
ORPHA:94122 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure, Aggressive behavior |
OMIM:617709 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Hyps... |
OMIM:616409 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w... |
ORPHA:139431 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... |
OMIM:619000 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
EEG abnormality, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:610003 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia |
OMIM:616341 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure |
OMIM:619031 |
Developmental And Epileptic Encephalopathy 59 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... |
OMIM:617904 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... |
OMIM:607208 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
ORPHA:599373 |
Chorea, Benign Hereditary |
|
Chorea, Frequent falls, Gait disturbance |
OMIM:118700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... |
OMIM:301008 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dystonia |
OMIM:618924 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, General... |
ORPHA:86909 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Developmental And Epileptic Encephalopathy 98 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... |
OMIM:619605 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior |
OMIM:309530 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhyth... |
OMIM:616139 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Optic atrophy, My... |
OMIM:611726 |
Lissencephaly 10 |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... |
OMIM:618873 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity |
OMIM:300454 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... |
OMIM:618587 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, EEG... |
OMIM:613855 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Clonus, Babinski sign, Dysmetria, Hypochromic microcytic anemia, Dysdiadoch... |
OMIM:301310 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Unsteady gait, Head tremor |
OMIM:619988 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Myoclonus, Attention deficit hyperactivity disorder |
OMIM:619191 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Benign Familial Neonatal-Infantile Seizures |
|
Bilateral tonic-clonic seizure, Tonic seizure, EEG with focal spikes, Focal clonic seizure, Neona... |
ORPHA:140927 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... |
ORPHA:363710 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:79137 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta... |
OMIM:614018 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus, Dystonia |
ORPHA:139406 |
Landau-Kleffner Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seiz... |
ORPHA:98818 |
Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure |
OMIM:162350 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... |
OMIM:605021 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... |
OMIM:607876 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... |
ORPHA:208441 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure, EEG abnormality |
OMIM:612621 |
Juvenile Myoclonic Epilepsy |
|
EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure... |
ORPHA:307 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Generaliz... |
ORPHA:36387 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Generalized myoclonic seizure |
OMIM:618090 |
Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic seizure, At... |
OMIM:617106 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... |
OMIM:616645 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... |
OMIM:616948 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Bilateral tonic-clonic seizure, Hand tremor, Dysphagia, Recurrent hand flapping, Abnormal repetit... |
OMIM:617862 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Bruxism, Myoclonic seizure, Chore... |
OMIM:618497 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Spastic gait, Progressive ... |
ORPHA:401820 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Focal-onset seizure, Self-injuriou... |
OMIM:618917 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Seizure, Status e... |
ORPHA:330050 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... |
ORPHA:454887 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Dysmetria, Pseudobulbar paralysis, Difficulty... |
OMIM:613908 |
Unilateral Focal Polymicrogyria |
|
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... |
ORPHA:268947 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Progressiv... |
ORPHA:284332 |
Progressive Myoclonic Epilepsy Type 3 |
|
Bilateral tonic-clonic seizure, Focal EEG discharges with secondary generalization, Optic atrophy... |
ORPHA:263516 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Focal-onset seizure, Self-injurious behavior, Convulsive status epilepticus, Dystonia, Stereotypi... |
OMIM:618760 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act... |
OMIM:616540 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking |
OMIM:615048 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... |
OMIM:204300 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363549 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Seizure, Hyperactivity |
ORPHA:436151 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor |
OMIM:302500 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... |
OMIM:617350 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... |
OMIM:615528 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Eyelid myo... |
OMIM:616421 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... |
OMIM:619317 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... |
OMIM:618856 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Optic atrophy, Multifocal epileptiform discharges, Status epilept... |
OMIM:609056 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Atonic seizure, Ora... |
ORPHA:208447 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Multifocal e... |
OMIM:617711 |
Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
Epilepsy, Progressive Myoclonic, 8 |
|
EEG with photoparoxysmal response, Action myoclonus, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:616230 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, Optic atr... |
OMIM:619701 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Phonic tics, Seizure, Compulsive behaviors, Dystonia |
OMIM:301107 |
Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Ataxia, Hemiparesis |
OMIM:141500 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... |
ORPHA:101109 |
Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Myoclonic seizure, Dystonia |
OMIM:619301 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absenc... |
OMIM:271980 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... |
OMIM:300423 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... |
ORPHA:216873 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Seizure, Myoclonus |
OMIM:615362 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bilateral tonic-clonic seizure, Tremor, Dystonia, Generalized myoclonic seizure, Myoclonic absenc... |
OMIM:617836 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Bilateral tonic-clonic seizure, Nocturnal seizures, Myoclonus, Attention deficit ... |
OMIM:619725 |
Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Conductive hearing im... |
OMIM:617976 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Seizure, Myoclonus, Febrile seizure ... |
OMIM:612736 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P... |
ORPHA:276193 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk |
OMIM:619561 |
Hartnup Disorder |
|
Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Generalized tonic seizure |
OMIM:234500 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia |
OMIM:612126 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... |
OMIM:616710 |
Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure... |
OMIM:619913 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... |
ORPHA:240094 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor |
OMIM:615386 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... |
OMIM:604317 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Optic disc pallor, Bilateral tonic-clonic seizure, Hearing impairment, Status epilepticus |
OMIM:617082 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mannerisms |
OMIM:239500 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Seizure, Dystonia |
OMIM:612716 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
Kohlschutter-Tonz Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Hypsarrhythmia, Myoclonic seizure, Seizure |
OMIM:226750 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Myoclonic seizure, Dystonia |
OMIM:619302 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Choreoathetosis, Bilateral tonic-clonic seizure, Dystonia |
ORPHA:53583 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... |
OMIM:620292 |
Developmental And Epileptic Encephalopathy 23 |
|
Bilateral tonic-clonic seizure, Abnormal pinna morphology, Infantile spasms, Tonic seizure, Hypsa... |
OMIM:615859 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Upper motor n... |
ORPHA:276435 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Seizure, Abnormal motor ev... |
ORPHA:320401 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Myoclonus |
OMIM:605899 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Focal-onset seizure, Optic atrophy, Bilateral tonic-clonic seizure with generalized onset |
OMIM:618770 |
Developmental And Epileptic Encephalopathy 37 |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Choreoathetosis, M... |
OMIM:616981 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Tremor, Rigidity, Splenomegaly, Dystonia, Loss of ambulation, Thrombocytopenia |
OMIM:615010 |
Familial Infantile Myoclonic Epilepsy |
|
Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener... |
ORPHA:352582 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... |
ORPHA:1945 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Nonpr... |
ORPHA:453521 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Tremor, Seizure, Abnormal repetitive mannerisms |
OMIM:619470 |
Developmental And Epileptic Encephalopathy 93 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... |
OMIM:618012 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Seizure, Myoclonus, Generalized myoclonic seizure |
OMIM:301020 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasms |
ORPHA:250972 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor |
OMIM:616291 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:619338 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Inability to walk, Waddling gait |
OMIM:616269 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Bilateral tonic-clonic seizure, Infantile spasms, Dysphagia, Self-injurious behavior, Athetosis, ... |
OMIM:617493 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Bilateral tonic-clonic seizure |
OMIM:614322 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:600363 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Focal impaired awareness seizure, Statu... |
OMIM:613970 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Vacuolated lymphocytes, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus... |
OMIM:256731 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Foxg1 Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Choreoathetosis,... |
ORPHA:561854 |
Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... |
ORPHA:1929 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic... |
OMIM:617600 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, EEG with burst suppression, Myoclo... |
OMIM:617290 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Optic atrophy, Generalized non-motor (absence) seizure, Myoclonic... |
OMIM:617810 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:101075 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Ataxia, Spastic tetraparesis, Neutropenia, Intention tremor |
OMIM:266130 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Hyperlysinemia, Type I |
|
Seizure, Hyperactivity |
OMIM:238700 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... |
OMIM:619616 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Seizure, EEG with focal slow activity, Bilateral tonic-clonic seizure, Multifocal epileptiform di... |
ORPHA:209370 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Bilateral tonic-clonic seizure, Myoclonus, Dystonia |
OMIM:619065 |
Microcephaly, Seizures, And Developmental Delay |
|
Seizure, Hyperactivity |
OMIM:613402 |
Peho-Like Syndrome |
|
Bilateral tonic-clonic seizure, Optic atrophy, Hypsarrhythmia, Status epilepticus, Myoclonus |
OMIM:617507 |
Developmental And Epileptic Encephalopathy 47 |
|
Optic disc pallor, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Multifocal... |
OMIM:617166 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsiness, Limb ataxia, Progressive... |
ORPHA:284324 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... |
ORPHA:71517 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus |
OMIM:619028 |
Developmental And Epileptic Encephalopathy 90 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Hypsarrhythmia, ... |
OMIM:301058 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Seizure precipitated by febrile infection, Bilateral tonic-clonic sei... |
ORPHA:363558 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Hyperactivity, Limb dystonia, Aggressive behavior |
OMIM:620270 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Seizure, Bilateral tonic-clonic seizure, Large earlobe |
OMIM:620317 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with multifocal slow ac... |
ORPHA:289266 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics |
OMIM:619927 |
Aminoacylase 1 Deficiency |
|
Seizure, Hyperactivity, Bilateral tonic-clonic seizure |
OMIM:609924 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:101078 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Generalized... |
ORPHA:485350 |
Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation |
OMIM:617916 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait |
OMIM:618387 |
Mannosidosis, Beta A, Lysosomal |
|
Seizure, Hyperactivity, Aggressive behavior |
OMIM:248510 |
Chromosome 22Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ... |
OMIM:615538 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ... |
OMIM:619854 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Developmental And Epileptic Encephalopathy 41 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, Hypsarrh... |
OMIM:617105 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Postural tremor, Bilateral tonic-clonic seizure |
ORPHA:100988 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Lissencephaly 3 |
|
Seizure, Bilateral tonic-clonic seizure, Generalized tonic seizure |
OMIM:611603 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... |
OMIM:607346 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Seizure, Hyperactivity |
OMIM:300928 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Seizure, Hyperactivity, Aggressive behavior |
OMIM:300983 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia |
ORPHA:306669 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... |
ORPHA:420492 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non... |
OMIM:300558 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, EEG with burst suppression, Hypsarrhythmia, Stat... |
OMIM:612164 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Eyelid myoclonus, Clumsiness, Hepatosplenomegaly, Myocl... |
ORPHA:2590 |
Developmental And Epileptic Encephalopathy 66 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... |
OMIM:618067 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Optic atrophy, EEG abnormali... |
ORPHA:457205 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spastic paraparesis |
ORPHA:101077 |
Alpers-Huttenlocher Syndrome |
|
Choreoathetosis, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:726 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Attention defici... |
ORPHA:98784 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Seizure, Optic atrophy, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:204200 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... |
OMIM:300607 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... |
OMIM:610185 |
Developmental And Epileptic Encephalopathy 106 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure |
OMIM:620028 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Developmental And Epileptic Encephalopathy 79 |
|
Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My... |
OMIM:618559 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Truncal titubation, Limb ataxia, Dysmetria, Gait ataxia, Impaired tandem gait, ... |
OMIM:117360 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... |
OMIM:619428 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:620200 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... |
OMIM:610539 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Aggres... |
OMIM:610042 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Self-injurious behavior, Seizure, Bruxism, Abnormal repetitive mannerisms,... |
OMIM:618718 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
OMIM:615637 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking |
ORPHA:477673 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Attention deficit hyperactivity... |
ORPHA:64280 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:618470 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic gait |
OMIM:616795 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with generalized slow activity, Bilateral tonic-clonic seizure, Focal-onset seizure, Typical ... |
ORPHA:168491 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... |
OMIM:618877 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Spastic Ataxia 5, Autosomal Recessive |
|
Bilateral tonic-clonic seizure, Dysphagia, Myoclonus, Dystonia, Generalized myoclonic seizure |
OMIM:614487 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Dystonia |
OMIM:203740 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Hypertonia, Steppage gait, Spasticity |
OMIM:609260 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred speech, Unsteady gait... |
ORPHA:93952 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure... |
OMIM:616281 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Seizure, EEG... |
OMIM:617519 |
Dk1-Cdg |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Multifocal epileptiform di... |
ORPHA:91131 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Paraparesis, Ataxia, Gait disturbance |
ORPHA:99014 |
Developmental And Epileptic Encephalopathy 61 |
|
Seizure, Optic atrophy, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:617933 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Tonic seizure,... |
OMIM:619580 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity... |
OMIM:210000 |
Infantile Cerebellar-Retinal Degeneration |
|
Focal-onset seizure, Sensorineural hearing impairment, Optic atrophy, Bilateral tonic-clonic seizure |
OMIM:614559 |
Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
Brain Small Vessel Disease 2 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614483 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... |
ORPHA:79263 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athetosis, Abno... |
ORPHA:280219 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... |
OMIM:617013 |
Hereditary Methemoglobinemia |
|
Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity, Methemoglobinemia |
ORPHA:621 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Optic atrophy, Bilateral tonic-clonic seizure, Hearing impairment |
OMIM:618237 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls |
OMIM:616719 |
Sarcosinemia |
|
Optic atrophy, Bilateral tonic-clonic seizure, Infantile sensorineural hearing impairment |
ORPHA:3129 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Seizure, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unsteady gait, Dysmetria, Clumsiness,... |
OMIM:609270 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Tip-toe gait, Gait di... |
OMIM:302800 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Seizure, Febrile seizure (within the age range of 3 months to... |
OMIM:615516 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Seizure, EEG with focal spikes, Bilateral tonic-clonic seizure |
ORPHA:488635 |
Severe Canavan Disease |
|
Seizure, Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia |
ORPHA:314911 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Bilateral tonic-clonic seizure, Tonic seizure, Hypsarrhythmia, Myoclonic seizure, Focal impaired ... |
OMIM:619983 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Spastic paraparesis |
ORPHA:391417 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Hypsarrhythmia, Myoclonic seizure, Macrotia, Hea... |
OMIM:619877 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,... |
OMIM:617435 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Tongue fasciculations... |
ORPHA:276198 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Tremor, Inability to walk, Limb myoclonus, Gait ataxia, Pill-rol... |
ORPHA:3095 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Bilateral tonic-clonic seizure, Dysphagia, Myoclonus, Dystonia, Generalized myoclonic seizure |
ORPHA:313772 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Vestibular areflexia, Babinski sign, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... |
ORPHA:504476 |
Canavan Disease |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Optic atrophy, Multifocal epileptiform discharge... |
OMIM:271900 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... |
OMIM:311510 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... |
ORPHA:3077 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Hypertonia, Spasticity |
ORPHA:33445 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Tongue fasciculations, Difficulty walking, Myoclonus, Frequent falls |
OMIM:159950 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Hypertonia, Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Hypsarrhythmi... |
OMIM:600721 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Sulfite Oxidase Deficiency, Isolated |
|
Choreoathetosis, Generalized dystonia, Agitation, Bilateral tonic-clonic seizure |
OMIM:272300 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... |
OMIM:261640 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Bilateral tonic-clonic seizure |
OMIM:240900 |
Hyperekplexia 3 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
Lafora Disease |
|
Giant somatosensory evoked potentials, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei... |
ORPHA:501 |
Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Steppage gait, Gait disturbance |
OMIM:118300 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil... |
OMIM:607483 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... |
ORPHA:254881 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Sei... |
OMIM:618170 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... |
ORPHA:101 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Seizure, Hyperactivity |
OMIM:617169 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Optic atrophy, EEG abnormality, Seizure, Status epilepticus |
ORPHA:529665 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity |
ORPHA:542310 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, EEG with f... |
ORPHA:98795 |
Houge-Janssens Syndrome 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:618354 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Generalized dystonia, Bilateral tonic-clonic seizure, Focal motor seizure |
OMIM:618235 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Seizure, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Babinski sign, Slurred speech, Unsteady gait, Clumsiness, Poor fine motor... |
ORPHA:137898 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Unsteady gait, Dysmetria, Limb at... |
OMIM:183090 |
Neuronal Intranuclear Inclusion Disease |
|
Tremor, Gait disturbance, Ataxia, Rigidity |
OMIM:603472 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Inability to walk, Limb fasciculations |
ORPHA:90117 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Compulsive... |
OMIM:261600 |
Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... |
ORPHA:228360 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor |
ORPHA:713 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, EEG with generalized epilepti... |
ORPHA:488613 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Bruxism |
OMIM:615716 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ambulation, Spasticity |
OMIM:607694 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Hypertonia, Gait disturbance, Anemia |
ORPHA:1192 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Dysmetria |
OMIM:615578 |
Primary Progressive Freezing Gait |
|
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbalance, Shuffling gait, D... |
ORPHA:75567 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia |
OMIM:612016 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Aggressive behavior |
OMIM:616083 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Dysphagia, Seizure, Dystonia |
ORPHA:500180 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Limb ataxia, Gait ataxia, Truncal ataxia, Oculomotor apraxia, L... |
OMIM:208920 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Simple feb... |
ORPHA:1942 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... |
OMIM:168601 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Bilateral tonic-clonic seizure, Seizure, Dystonia, Generalized myoclonic seizure, Focal myoclonic... |
ORPHA:464282 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus |
ORPHA:309155 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Progressive sensorineural hearing impairment, Bilateral tonic-clonic seizure, Bilateral sensorine... |
OMIM:540000 |
Cln3 Disease |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Myoclonic seizure, Seiz... |
ORPHA:228346 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Gait ataxia, Bradykinesi... |
OMIM:300623 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168600 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,... |
OMIM:616586 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus |
OMIM:618314 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Tonic seizure... |
OMIM:300912 |
4H Leukodystrophy |
|
Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of extrapyram... |
ORPHA:289494 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus |
OMIM:614652 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Juvenile Huntington Disease |
|
Seizure, Hyperactivity, Myoclonus, Dystonia |
ORPHA:248111 |
Leukoencephalopathy With Ataxia |
|
Action tremor, Limb ataxia, Gait ataxia |
OMIM:615651 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... |
ORPHA:52368 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity |
OMIM:616840 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, Steppage gait, Myoclonus, Inte... |
OMIM:616505 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... |
OMIM:312080 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168605 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Bilateral tonic-clonic seizure, Infantile spasms, EEG with focal sharp waves, Hypsarrhythmia, Sei... |
ORPHA:79243 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Focal impaired awar... |
OMIM:618325 |
D-Glyceric Aciduria |
|
Bilateral tonic-clonic seizure, Tongue thrusting, Opisthotonus, Seizure, Focal clonic seizure, My... |
OMIM:220120 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Tremor, Leukocytosis, Choreoathetosis, Steppage gait, Gait disturbance, Difficulty walking, Frequ... |
ORPHA:206594 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Sensorineural heari... |
ORPHA:544503 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:615031 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc... |
ORPHA:442835 |
Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Writer's cramp, Involuntary movements, Chorea, Babinski sign, Leg d... |
ORPHA:157846 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Protruding ear, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617468 |
3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... |
OMIM:619835 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Cloni... |
OMIM:617281 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Bilateral tonic-clonic seizure, Seizure, Myoclonic spasms, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:79264 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Gait ataxia |
ORPHA:3124 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Tetrapa... |
ORPHA:363400 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
Aceruloplasminemia |
|
Refractory anemia, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Ri... |
ORPHA:48818 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy... |
OMIM:616973 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Tremor, Inability to walk, Hypertonia, Ataxia |
OMIM:619556 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor... |
OMIM:614298 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus |
OMIM:619092 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Seizure, Hyperactivity, Infantile spasms, Tonic seizure |
OMIM:619239 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... |
ORPHA:765 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Seizure, Hyperactivity, Impulsivity |
OMIM:300143 |
Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Trem... |
ORPHA:1934 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Ritscher-Schinzel Syndrome 4 |
|
Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Focal-onset seizure, Athetosis,... |
OMIM:619435 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Bilateral tonic-clonic seizure |
OMIM:619278 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clonus, Tremor, Splenomegaly, Chorea, Leukocytosis, Clumsiness, Choreoathetosis, Abnormal... |
OMIM:615673 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Athetosis, Seizure, Focal impaired awareness seizure, Polydipsia,... |
ORPHA:369929 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia |
OMIM:617101 |
Lissencephaly Due To Tuba1A Mutation |
|
Aganglionic megacolon, Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasms, ... |
ORPHA:171680 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia |
ORPHA:683 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance |
ORPHA:83629 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... |
OMIM:614381 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Choreoathetosis, Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:620023 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Aggressive behavior |
ORPHA:199354 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure, Head-banging |
OMIM:619356 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Hypoglycemic seizures, Dys... |
ORPHA:480864 |
Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, Thrombocytopenia... |
OMIM:617710 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism |
OMIM:616351 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Self-i... |
ORPHA:457351 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Bilateral tonic-clonic seizure, Opisthotonus, Status epilepticus, Myoclonus, Dystonia |
OMIM:616672 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Focal clonic seizure, Bilateral tonic-clonic seizure, Intention tremor |
OMIM:618381 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Focal-onset ... |
ORPHA:163681 |
Bilateral Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... |
ORPHA:268940 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Myoclonus, Throm... |
OMIM:254900 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... |
OMIM:301091 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Inability to walk, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, Myoclonus, Self... |
ORPHA:364028 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Tremor, Impaired tandem gait, Polyminimyoclonus, Fasciculations, Vocal cord paresis |
OMIM:619574 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Bilateral tonic-clonic seizure |
OMIM:618120 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Neuromuscular Oculoauditory Syndrome |
|
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Infantile spasms, Decreased nerve condu... |
OMIM:618733 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Bilateral tonic-clonic seizure, Aganglionic megacolon, Sensorineural hearing impairment, Generali... |
OMIM:614207 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Athetosis, Seizure, Dystonia, Self-mutilation |
ORPHA:52503 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges |
ORPHA:453510 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Bilateral tonic-clonic seizure, Protruding ear, Seizure, Low-set ears, Overfolded helix, Macrotia... |
ORPHA:481152 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism |
ORPHA:178509 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Opisthotonus, Seizure, Inappropriate laughter, Myoclonus, Sel... |
OMIM:103050 |
Alternating Hemiplegia Of Childhood |
|
Dystonia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Anorexia, Oral-pharyn... |
ORPHA:2131 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Unsteady gait, Norm... |
OMIM:615512 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Focal-onset seizure, Generalized dystonia, Bilateral tonic-clonic seizure, Dysphagia |
ORPHA:329308 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... |
ORPHA:99027 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Acanthocytosis, Tremor, Rigidity, Babinski sign, ... |
OMIM:234200 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Abnormal eating behavior, Tremor, Tongue thrusting, Seizure, Inappropriate laughte... |
ORPHA:98794 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Bilateral tonic-clonic seizure, Underfolded helix, Posteriorly rotated ears, Focal-onset seizure,... |
OMIM:618316 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
3P25.3 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Attention deficit hypera... |
ORPHA:435638 |
Glass Syndrome |
|
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Freque... |
OMIM:612313 |
Angelman Syndrome |
|
Hyperactivity, Generalized myoclonic seizure, Atonic seizure, Aggressive behavior, Tremor, Infant... |
ORPHA:72 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Bilateral tonic-clonic seizure, Abnormal autonomic nervous system physiology, M... |
ORPHA:478029 |
Biotinidase Deficiency |
|
Bilateral tonic-clonic seizure, Infantile spasms, Optic neuropathy, Sensorineural hearing impairm... |
ORPHA:79241 |
Chronic Bilirubin Encephalopathy |
|
Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Thrombocytopenia |
OMIM:222300 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Dysdiadochokinesis, Difficulty walking... |
OMIM:617675 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Tremor, ... |
OMIM:613179 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Ataxia, Tremor, Myoclonus, Loss of ambulation, Right hemiplegia, Anemia |
OMIM:607426 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Multifocal epileptiform ... |
OMIM:615398 |
Hermansky-Pudlak Syndrome 10 |
|
Bilateral tonic-clonic seizure, EEG abnormality, Low-set ears, Macrotia, Focal myoclonic seizure |
OMIM:617050 |
Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to walk, Dysmetria, Clu... |
ORPHA:845 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cho... |
OMIM:617988 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Athetos... |
ORPHA:79351 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615501 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Seizure, Vestibular areflexia, Absent brainstem auditory responses |
ORPHA:3240 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ataxia, Head ... |
OMIM:606002 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
ORPHA:42 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:614231 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Myoclonic spasms, ... |
ORPHA:447997 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hy... |
OMIM:615356 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... |
OMIM:208900 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Neutropenia, Opisthotonus, Choreoathetosis, Leukopenia, Hyperkinetic movements, M... |
OMIM:616271 |
Developmental And Epileptic Encephalopathy 95 |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Focal-onset seizur... |
OMIM:618143 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Pelger-Huet Anomaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:169400 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Truncal ataxia, Sp... |
OMIM:105210 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) se... |
OMIM:620224 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Seizure, Abnormal temper tantrums, A... |
ORPHA:449291 |
Nivelon-Nivelon-Mabille Syndrome |
|
Focal-onset seizure, Optic disc coloboma, Bilateral tonic-clonic seizure |
OMIM:600092 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Tremor, Thrombocytope... |
OMIM:214500 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Aganglionic megacolon, Cupped ... |
ORPHA:247262 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Dysphagia, Dystonia, Febrile seizure (within the age range of 3 m... |
ORPHA:496641 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Generalized non-motor (absence) seizure, Abnormal repetitive mannerisms, Inappropriate laughter, ... |
OMIM:615802 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Athetosis, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:615474 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Sensorineural hearing impairment, Bilateral tonic-clonic seizure, Low-set ears |
ORPHA:423479 |
Japanese Encephalitis |
|
Bilateral tonic-clonic seizure, Anorexia, Tremor, Focal motor seizure, Opisthotonus, Pill-rolling... |
ORPHA:79139 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Eosinophilia, Fasciculations |
ORPHA:99965 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Optic atrophy, Generalized non-motor (absenc... |
ORPHA:395 |
Choreoacanthocytosis |
|
Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Self-mutilation of tongue and lips due t... |
ORPHA:2388 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Lower limb hypertonia, Falls,... |
ORPHA:447753 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:620070 |
Warburg Micro Syndrome 3 |
|
Macrotia, Optic atrophy, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:614222 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... |
OMIM:601104 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, EEG abnormality, Microti... |
OMIM:617798 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Bilateral tonic-clonic seizure |
ORPHA:79350 |
Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity |
ORPHA:2828 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Chromosome Xp11.3 Deletion Syndrome |
|
Optic atrophy, Bilateral tonic-clonic seizure |
OMIM:300578 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Optic atrophy, Seizure, Generalized tonic seizure |
OMIM:617193 |
Arthrogryposis, Distal, Type 2A |
|
Seizure, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Sandhoff Disease |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:268800 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Toni... |
OMIM:620024 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:620300 |
Amish Lethal Microcephaly |
|
Optic atrophy, Bilateral tonic-clonic seizure |
ORPHA:99742 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Dysphagia, Seizure, Dystonia, Intention tremor |
OMIM:610217 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Bilateral tonic-clonic seizure |
ORPHA:369840 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Sel... |
ORPHA:466943 |
Bone Marrow Failure Syndrome 5 |
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Bilateral tonic-clonic seizure |
OMIM:618165 |
Multiple System Atrophy 1, Susceptibility To |
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Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Leukodystrophy, Hypomyelinating, 13 |
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Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Bilateral tonic-clonic seizure, Hearing impairment, Generalized non-motor (absence) seizure, Mult... |
ORPHA:369837 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz... |
ORPHA:466950 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
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Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Focal impaired awareness seizure, B... |
OMIM:617799 |
Tyrosinemia Type 2 |
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Tremor, Ataxia |
ORPHA:28378 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Dominant Beta-Thalassemia |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Metachromatic Leukodystrophy |
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Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... |
ORPHA:512 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Reticulocytosis, Tremor, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:274150 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Self-injurious b... |
OMIM:619512 |
Beta-Thalassemia Major |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Bilateral tonic-clonic seizure |
OMIM:201475 |
Trisomy 10P |
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Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Molybdenum Cofactor Deficiency, Complementation Group B |
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Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms, Opisthotonus |
OMIM:252160 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Bilateral tonic-clonic seizure, Infantile spasms, Dysphagia, Seizure, Dystonia, Generalized myocl... |
ORPHA:255210 |
W Syndrome |
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Bilateral tonic-clonic seizure |
ORPHA:2804 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
ORPHA:3044 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Optic atrophy, Seizure, Macrotia, Abnormality of peripheral ... |
ORPHA:90321 |
Melas |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Sensorineural hearing impairment, Optic atro... |
ORPHA:550 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pulling, Polyphagia, Gener... |
OMIM:620330 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Agitation, Hand tremor |
ORPHA:99819 |
Cocaine Intoxication |
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Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Atypical absence status epilepticus,... |
ORPHA:90068 |
Lujo Hemorrhagic Fever |
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Resting tremor, Seizure, Bilateral tonic-clonic seizure, Dysphagia |
ORPHA:319213 |
Niemann-Pick Disease Type C |
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Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Bone-marrow foam cells, ... |
ORPHA:646 |
Kinsship Syndrome |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... |
OMIM:619297 |
Charcot-Marie-Tooth Disease Type 1F |
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Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
1Q44 Microdeletion Syndrome |
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Bilateral tonic-clonic seizure |
ORPHA:238769 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Seizure, Bilateral tonic-clonic seizure with focal onset, Dysphagia, Aggressive behavior |
ORPHA:488627 |
Combined Oxidative Phosphorylation Deficiency 3 |
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Tremor, Seizure, Bilateral tonic-clonic seizure, Dystonia |
OMIM:610505 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Posteriorly rotated ears, Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Seizu... |
OMIM:301040 |
D-Bifunctional Protein Deficiency |
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Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Seizure, Low-set ears, Heari... |
OMIM:261515 |
Weaver Syndrome |
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Seizure, Polyphagia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:277590 |
Pseudoleprechaunism Syndrome, Patterson Type |
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Macrotia, Atonic seizure, Bilateral tonic-clonic seizure |
ORPHA:2976 |
Mogs-Cdg |
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Seizure, Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses |
ORPHA:79330 |
Mosaic Variegated Aneuploidy Syndrome 1 |
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Bilateral tonic-clonic seizure, Posteriorly rotated ears, Seizure, Low-set ears, Generalized myoc... |
OMIM:257300 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Cerebrotendinous Xanthomatosis |
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Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity, Agitation, Hand tremor |
ORPHA:424 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
Hallermann-Streiff Syndrome |
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Choreoathetosis, Hyperactivity, Bilateral tonic-clonic seizure |
OMIM:234100 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized myoclonic-atonic ... |
OMIM:614756 |
Oliver Syndrome |
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Small earlobe, Bilateral tonic-clonic seizure, Absent earlobe |
ORPHA:2920 |
Lead Poisoning |
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Imbalanced hemoglobin synthesis, Poor gross motor coordination, Abnormal T cell morphology, Poor ... |
ORPHA:330015 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
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Bilateral tonic-clonic seizure |
ORPHA:436159 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
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Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Acquired Methemoglobinemia |
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Methemoglobinemia |
ORPHA:464453 |
X Small Rings |
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Seizure, Bilateral tonic-clonic seizure, Protruding ear |
ORPHA:96201 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Bilateral tonic-clonic seizure, Anteverted ears, Focal-onset seizure, Sensorineural hearing impai... |
ORPHA:459070 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Multifocal seizures, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Infantile spasms, ... |
OMIM:301044 |
Shwachman-Diamond Syndrome 1 |
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Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
De Sanctis-Cacchione Syndrome |
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Sensorineural hearing impairment, Optic atrophy, Bilateral tonic-clonic seizure |
OMIM:278800 |
Webb-Dattani Syndrome |
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Bilateral tonic-clonic seizure |
OMIM:615926 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non-motor (absence) s... |
ORPHA:513456 |
Thymoma |
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Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence seizure, Seizure, Dysphagia,... |
ORPHA:268261 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Generalized-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure |
OMIM:620066 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Spastic paraplegia, Abnormal hemoglobin, Anemia |
ORPHA:847 |
Holoprosencephaly 14 |
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EEG abnormality, Macrotia, Bilateral tonic-clonic seizure, Low-set ears |
OMIM:619895 |
Cockayne Syndrome B |
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Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Cockayne Syndrome A |
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Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:619769 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Bilateral tonic-clonic seizure |
ORPHA:79124 |
Mend Syndrome |
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Seizure, Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Hearing impairment |
ORPHA:99885 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Bilateral tonic-clonic seizure, Uplifted earlobe, Myoclonic seizure, Seizure, Conductive hearing ... |
OMIM:280000 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:618426 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Optic disc pallor, Sensorineural hearing impairment, Bilateral tonic-clonic seizure, Optic neurop... |
OMIM:252010 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Tremor, Seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:614947 |
Ogden Syndrome |
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Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Dysphagia, Abnormal repet... |
OMIM:300855 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:73224 |
Gaucher Disease |
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Tremor, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysphagia |
ORPHA:355 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Self-injurious b... |
OMIM:612474 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Epileptic spasm, Dysphagia, Seizure, Myoclonus, Dystonia, Bilateral... |
ORPHA:438213 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Low-set, posteriorly rotated ears, Macrotia, Bilateral tonic-clonic seizure |
ORPHA:457359 |
Developmental And Epileptic Encephalopathy 48 |
|
Seizure, Status epilepticus, Optic disc pallor, Hypsarrhythmia |
OMIM:617276 |
Hartsfield Syndrome |
|
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Low-set ears |
OMIM:615465 |
Doors Syndrome |
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Bilateral tonic-clonic seizure, Optic atrophy, EEG abnormality, Focal impaired awareness seizure,... |
ORPHA:79500 |
Orofaciodigital Syndrome Type 2 |
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Conductive hearing impairment, Bilateral tonic-clonic seizure, Protruding ear |
ORPHA:2751 |
Sotos Syndrome |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Generalized non-motor (absence) seiz... |
ORPHA:821 |
Kabuki Syndrome 1 |
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Posteriorly rotated ears, Bilateral tonic-clonic seizure with focal onset, Protruding ear, Seizur... |
OMIM:147920 |