| Myoclonic Epilepsy, Hartung Type |
|
Generalized myoclonic seizure |
OMIM:159600 |
| Intellectual Developmental Disorder, X-Linked 89 |
|
Generalized myoclonic seizure |
OMIM:300848 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... |
OMIM:607628 |
| Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
| Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... |
OMIM:607631 |
| Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
| Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
| Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
| Epilepsy, Familial Temporal Lobe, 7 |
|
Focal sensory seizure with auditory features |
OMIM:616436 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:616685 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:616172 |
| Epilepsy, Myoclonic Juvenile |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... |
OMIM:254770 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... |
OMIM:604233 |
| Epilepsy, Familial Temporal Lobe, 8 |
|
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... |
OMIM:616461 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... |
OMIM:609800 |
| Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:617924 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:604403 |
| Epilepsy, Juvenile Myoclonic, Susceptibility To, 9 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:614280 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 8 |
|
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:612899 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Involuntary movements, Seizure, Generalized non-motor (absence) seizure, Chorea, Paresthesia, Irr... |
ORPHA:98811 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613863 |
| Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, S... |
OMIM:609446 |
| Febrile Seizures, Familial, 9 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:611634 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613060 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:618482 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:611364 |
| Epilepsy, Early-Onset, 3, With Or Without Developmental Delay |
|
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:620465 |
| Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset |
OMIM:611630 |
| Developmental And Epileptic Encephalopathy 9 |
|
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... |
OMIM:300088 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... |
OMIM:618357 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... |
OMIM:600512 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... |
OMIM:617831 |
| Epilepsy, Familial Temporal Lobe, 4 |
|
Focal aware seizure, Focal impaired awareness seizure, Focal sensory seizure with visual features |
OMIM:611631 |
| Juvenile Myoclonic Epilepsy |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:307 |
| Perioral Myoclonia With Absences |
|
Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil... |
ORPHA:139426 |
| Landau-Kleffner Syndrome |
|
Speech apraxia, Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Atypic... |
ORPHA:98818 |
| Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Action tre... |
OMIM:617665 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, Tremor, L... |
OMIM:614018 |
| Juvenile Absence Epilepsy |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:1941 |
| Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... |
OMIM:600131 |
| Febrile Seizures, Familial, 8 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... |
OMIM:607681 |
| Continuous Spikes And Waves During Sleep |
|
Myoclonic absence seizure, Speech apraxia, EEG with frontal focal spike waves, Focal hemiclonic s... |
ORPHA:725 |
| Myoclonic-Atonic Epilepsy |
|
Myoclonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Tremor, Attention def... |
OMIM:616421 |
| Developmental And Epileptic Encephalopathy 43 |
|
Myoclonic seizure, Atonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hy... |
OMIM:617113 |
| Developmental And Epileptic Encephalopathy 19 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... |
OMIM:615744 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure |
OMIM:618596 |
| Dravet Syndrome |
|
Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen... |
OMIM:607208 |
| Developmental And Epileptic Encephalopathy 26 |
|
Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur... |
OMIM:616056 |
| Developmental And Epileptic Encephalopathy 94 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:615369 |
| Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Slender build, Ataxia |
OMIM:617709 |
| Developmental And Epileptic Encephalopathy 67 |
|
Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic... |
OMIM:618141 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-... |
ORPHA:36387 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia |
ORPHA:22 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Gait ataxia, Myoclonus, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl... |
OMIM:618587 |
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
| Benign Familial Infantile Epilepsy |
|
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... |
ORPHA:306 |
| Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
| Epilepsy With Eyelid Myoclonia |
|
Continuous spike and waves during slow sleep, Limb myoclonus, Generalized non-motor (absence) sei... |
ORPHA:139431 |
| Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Typical absence seizure, Seizure, Incoordination, Epileptic spasm, Aggressive ... |
OMIM:616409 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Bilateral tonic-clonic seizure on awakening, Episodic ataxia, Generalize... |
OMIM:607682 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... |
OMIM:614417 |
| Lennox-Gastaut Syndrome |
|
Falls, Myoclonus, Focal-onset seizure, Irritability, Aggressive behavior, Generalized tonic seizu... |
ORPHA:2382 |
| Developmental And Epileptic Encephalopathy 24 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... |
OMIM:615871 |
| Developmental And Epileptic Encephalopathy 57 |
|
Seizure, Epileptic spasm, Tonic seizure, Atypical absence seizure, Generalized myoclonic seizure |
OMIM:617771 |
| Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... |
OMIM:618396 |
| Developmental And Epileptic Encephalopathy 31A |
|
Self-injurious behavior, Myoclonic seizure, Difficulty walking, Inability to walk, Epileptic spas... |
OMIM:616346 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Inflexible adherence to routines, Seizure, Bilateral tonic-clonic seizure, ... |
OMIM:608636 |
| Developmental And Epileptic Encephalopathy 108 |
|
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... |
OMIM:620115 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonic seizure, Depression, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, ... |
OMIM:162350 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys... |
OMIM:254800 |
| Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... |
OMIM:619317 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Aggressive... |
OMIM:619157 |
| Developmental And Epileptic Encephalopathy 15 |
|
Myoclonic seizure, Inability to walk, Focal clonic seizure, Epileptic spasm, Irritability, Tonic ... |
OMIM:615006 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:101039 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... |
OMIM:601068 |
| Seizures, Benign Familial Infantile, 5 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:617080 |
| Spastic Ataxia With Congenital Miosis |
|
Spastic ataxia, Seizure, Hemiplegia/hemiparesis, Ataxia |
ORPHA:1182 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Depression, Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder, B... |
OMIM:619191 |
| Developmental And Epileptic Encephalopathy 109 |
|
Spasticity, Crouch gait, Myoclonic seizure, Failure to thrive, Typical absence seizure, Gait atax... |
OMIM:620145 |
| Dystonia 31 |
|
Arm dystonia, Depression, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dysto... |
OMIM:619565 |
| Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Inability to walk, Aggressive behavior, Attention deficit hyperactivity disorder, Lower limb spas... |
OMIM:619639 |
| Myoclonic Epilepsy Of Infancy |
|
Poor motor coordination, Poor hand-eye coordination, Generalized non-motor (absence) seizure, Feb... |
ORPHA:86909 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Typical absence seizure, Limb myoclonus, Seizure, Frequent falls, Difficulty walking, Inability t... |
ORPHA:2590 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Episodic Ataxia, Type 5 |
|
Typical absence seizure, Episodic ataxia, Febrile seizure (within the age range of 3 months to 6 ... |
OMIM:613855 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Myoclonic absence seizure, Tremor, Rigidity, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Br... |
OMIM:617836 |
| Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
| Developmental And Epileptic Encephalopathy 52 |
|
Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, ... |
OMIM:617350 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal p... |
OMIM:614561 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Depression, Seizure, Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... |
OMIM:615362 |
| Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... |
OMIM:617391 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability to walk, Gait a... |
OMIM:617810 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Focal impaired awareness seizure, Atonic seizure, Seizure, Chorea, Abnor... |
ORPHA:382 |
| Spinocerebellar Ataxia 48 |
|
Depression, Chorea, Gait ataxia, Dysmetria, Tremor, Irritability, Babinski sign, Parkinsonism, Ca... |
OMIM:618093 |
| Myoclonic Epilepsy, Familial Infantile |
|
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... |
OMIM:605021 |
| Stxbp1-Related Encephalopathy |
|
Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Seiz... |
ORPHA:599373 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonic seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia |
OMIM:616187 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Seizure, Tremor, Ataxia |
OMIM:213000 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Involuntary movements, Emotional lability, Aggressive behavior, Bilateral tonic-clonic seizure, M... |
OMIM:617171 |
| Developmental Delay With Or Without Epilepsy |
|
Spasticity, Myoclonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Seizure, ... |
OMIM:620540 |
| Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Depression, Myoclonus, Abnormality of extrapyramidal motor function, Status epilepticus without p... |
OMIM:204300 |
| Developmental And Epileptic Encephalopathy 59 |
|
Self-injurious behavior, Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure... |
OMIM:617904 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Hyperkinetic movements... |
OMIM:271980 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Falls, Seizure, Bruxism, Inappropriate laughter, Chorea, Focal-onset seizure, Dystonia, Aggressiv... |
OMIM:619150 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Dyst... |
OMIM:618425 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Tonic seizure, Gait disturbance, Hyp... |
OMIM:618090 |
| Developmental And Epileptic Encephalopathy 112 |
|
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... |
OMIM:620537 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Spasticity, Seizure, Inability to walk, Generalized-onset seizure, Ankle clonus, Irritability, Ba... |
OMIM:616657 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
ORPHA:79137 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Upper limb spasticity, Depression, Generalized non-motor (absence) seizu... |
ORPHA:485350 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl... |
OMIM:613608 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
| N-Acetylaspartate Deficiency |
|
Broad-based gait, Seizure, Self-mutilation, Decreased body weight, Truncal ataxia, Unsteady gait,... |
OMIM:614063 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Hand tremor, Recurrent hand flapping, Gait ataxia, Dysphagia, Bilateral tonic-c... |
OMIM:617862 |
| Lissencephaly 10 |
|
Myoclonic seizure, Focal impaired awareness seizure, Depression, Generalized non-motor (absence) ... |
OMIM:618873 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
| Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
| Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
| Epilepsy, Familial Temporal Lobe, 6 |
|
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... |
OMIM:615697 |
| Developmental And Epileptic Encephalopathy 13 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:614558 |
| Dravet Syndrome |
|
Incoordination, Action tremor, Obsessive-compulsive trait, Focal hemiclonic seizure, Parkinsonism... |
ORPHA:33069 |
| Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Tremor, E... |
OMIM:615127 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Depression, Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Up... |
ORPHA:401901 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Spasticity, Generalized non-motor (absence) seizure, Difficulty walking, Babinski sign, Ataxia |
OMIM:618242 |
| Symmetrical Thalamic Calcifications |
|
Spasticity, Failure to thrive, Seizure, Arrhythmia, EEG abnormality, Hypertonia, Ataxia |
ORPHA:1314 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
| Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility, Sensorineural hearing impairment |
ORPHA:94064 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Action myoclonus, Falls, Limb ataxia, Myoclonus, Gait disturbance, Bilateral tonic-clonic seizure... |
OMIM:616230 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic status epilepticus,... |
OMIM:611726 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Generalized-onset seizure, Focal sensory seizure, Infantile spasms, Paroxysmal dystonia, Paroxysm... |
OMIM:602066 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Spasticity, Febrile seizure (within the age range of 3 months to 6 years... |
OMIM:618917 |
| Alternating Hemiplegia Of Childhood 1 |
|
Episodic hemiplegia, Bilateral tonic-clonic seizure, Dystonia, Episodic quadriplegia, Choreoathet... |
OMIM:104290 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
| Episodic Ataxia, Type 9 |
|
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Dyst... |
OMIM:618924 |
| Seizures, Benign Familial Infantile, 2 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... |
OMIM:605751 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Atonic seizure, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia, Generalized myoclonic seizure |
OMIM:612437 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Irritability, Clumsiness, Bilateral tonic-clonic seizure, Restlessness, Focal impaired awareness ... |
OMIM:610003 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Generalized myoclonic seizure, Gait ataxia, Myoclonus, Bilateral tonic-clonic seizure, Action myo... |
OMIM:616540 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 3 |
|
Spasticity, Depression, Seizure, Limb ataxia, Rigidity, Loss of ambulation, Clumsiness, Lower lim... |
OMIM:620447 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
| Intellectual Disability-Epilepsy-Extrapyramidal Syndrome |
|
Involuntary movements, Broad-based gait, Tip-toe gait, Seizure, Gait imbalance, Gait ataxia, Emot... |
ORPHA:468620 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
| Yoon-Bellen Neurodevelopmental Syndrome |
|
Spasticity, Failure to thrive, Inability to walk, Infantile spasms, Bilateral tonic-clonic seizur... |
OMIM:619701 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Seizure, Action tremor, Rigidity, Babinski sign, Parkinsonism, Impaired tandem... |
OMIM:300423 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
| Rolandic Epilepsy |
|
Depression, Febrile seizure (within the age range of 3 months to 6 years), Dysesthesia, Paresthes... |
ORPHA:1945 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
| L-Ferritin Deficiency |
|
Generalized-onset seizure |
OMIM:615604 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Developmental And Epileptic Encephalopathy 42 |
|
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Hypertonia, Ataxia, Foca... |
OMIM:617106 |
| Huntington Disease-Like 1 |
|
Involuntary movements, Depression, Abnormal posturing, Seizure, Incoordination, Chorea, Gait atax... |
ORPHA:157941 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Spastic paraplegia, Impaired vibratory sensation, Postural tremor, Babinski sign, Gait disturbanc... |
ORPHA:100988 |
| Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Aggressive behavior, Depression, Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur... |
OMIM:619970 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Hearing impairment, Head tremor, Azoospermia, Torticol... |
OMIM:613724 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Spasticity, Limb ataxia, Gait ataxia, Babinski sign, Lower limb spasticity, Bilateral tonic-cloni... |
OMIM:614322 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... |
OMIM:619338 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Febrile Seizures, Familial, 4 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:604352 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:121210 |
| Febrile Seizures, Familial, 5 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:609255 |
| Febrile Seizures, Familial, 6 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:609253 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Generalized myoclonic seizure, Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure... |
OMIM:301020 |
| Migraine, Familial Hemiplegic, 1 |
|
Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation |
OMIM:141500 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Focal impaired awareness seizure, Seizure, Difficulty walking, Inability to wa... |
ORPHA:330050 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, In... |
OMIM:615400 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus |
OMIM:616921 |
| Dystonia 22, Juvenile-Onset |
|
Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower limb spasticity, Tor... |
OMIM:620453 |
| Developmental And Epileptic Encephalopathy 97 |
|
Seizure, Inability to walk, Epileptic spasm, Tremor, Stereotypical hand wringing |
OMIM:619561 |
| Developmental And Epileptic Encephalopathy 60 |
|
Spastic tetraplegia, Myoclonic seizure, Seizure, Inability to walk, Epileptic spasm, EEG with bur... |
OMIM:617929 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Myoclonic seizure, Seizure, Inability to walk, Bruxism, Epileptic spasm, Myoclonus, Stereotypical... |
OMIM:618497 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Small for gestational age, Focal impaired awareness seizure, Seizure, Speech apraxia, Focal-onset... |
OMIM:245570 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic absence seizure, Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Increas... |
OMIM:619000 |
| Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... |
OMIM:619177 |
| Developmental And Epileptic Encephalopathy 103 |
|
Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen... |
OMIM:619913 |
| Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Seizure, Complex febrile seizure, Chorea, Focal-onset seizure, Focal impai... |
ORPHA:31709 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait, Dysphagia |
OMIM:615945 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Generalized non-motor (absence) seizure, Seizure |
OMIM:613886 |
| Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Myoclonic absence seizure, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Torticollis |
OMIM:612621 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Inappropriate behavior, Fasciculations, Disinhibition, Abnormality of extra... |
ORPHA:275864 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Bilateral tonic-clonic... |
ORPHA:53583 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia |
OMIM:617018 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
| Hydroxylysinuria |
|
Generalized myoclonic seizure |
OMIM:236900 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Depression, Focal dystonia, Violent behavior, Frequent falls, Chorea, Upper motor neu... |
ORPHA:216873 |
| Developmental And Epileptic Encephalopathy 37 |
|
Spasticity, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic movements, Focal hemiclo... |
OMIM:616981 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Failure to thrive in infancy, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, D... |
OMIM:619065 |
| Salt And Pepper Developmental Regression Syndrome |
|
Failure to thrive, Myoclonus, Irritability, Bilateral tonic-clonic seizure, Status epilepticus, C... |
OMIM:609056 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| Polymicrogyria, Bilateral Temporooccipital |
|
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... |
OMIM:612691 |
| Developmental And Epileptic Encephalopathy 91 |
|
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic se... |
OMIM:617711 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Atonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... |
OMIM:612736 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Myoclonic absence seizure, Generalized-onset seizure, Abnormal eating behavior, Recurrent hand fl... |
ORPHA:544254 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:35878 |
| Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Spasticity, Seizure, Inability to walk, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait |
OMIM:620317 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... |
OMIM:608096 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Combined Immunodeficiency, X-Linked |
|
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... |
OMIM:312863 |
| Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
| Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
| Benign Occipital Epilepsy |
|
Focal impaired awareness seizure |
ORPHA:25968 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Hand tremor, Generalized-onset seizure, Myoclonus, EEG abnormality, Focal-onset seizure |
ORPHA:86814 |
| Dystonia 23 |
|
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Arrhythmia, Gait disturbance, Torticollis,... |
OMIM:614860 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Attention deficit hyperactivity d... |
OMIM:619725 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Myoclonic seizure, Cerebral palsy, Generalized non-motor (absence) seizure, Slender build, Chorea... |
OMIM:617600 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Generalized non-motor (absence) seizure, Atonic seizure |
OMIM:610293 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Self-injurious behavior, Convulsive status epilepticus, Inability to walk, Chorea, Stereotypical ... |
OMIM:618760 |
| Myoclonic-Astatic Epilepsy |
|
Atonic seizure, Generalized non-motor (absence) seizure, Abnormal emotion, Focal-onset seizure, T... |
ORPHA:1942 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Depression, Resting tremor, Seizure, Gait ataxia, Limb dystonia, Emotional lability, Parkinsonism... |
ORPHA:71517 |
| Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Spasticity, Generalized myoclonic seizure, Typical absence seizure, Ocul... |
ORPHA:208447 |
| Developmental And Epileptic Encephalopathy 34 |
|
Seizure, Inability to walk, Focal-onset seizure, Focal hemiclonic seizure, Abnormal pyramidal sig... |
OMIM:616645 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Ataxia |
OMIM:618709 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait |
ORPHA:401840 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Focal motor seizure, Generalized non-motor (absence) seizure |
OMIM:615553 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Spasticity, Failure to thrive, Seizure, Difficulty walking, Infantile spasms, Irritability, Tonic... |
OMIM:617393 |
| Developmental And Epileptic Encephalopathy 58 |
|
Seizure, Inability to walk, Motor stereotypy, Status epilepticus, Spastic diplegia |
OMIM:617830 |
| Carnosinemia |
|
Generalized myoclonic seizure |
OMIM:212200 |
| Bilateral Frontoparietal Polymicrogyria |
|
Typical absence seizure, Seizure, Gait imbalance, Bilateral tonic-clonic seizure with generalized... |
ORPHA:101070 |
| Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia |
OMIM:208700 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Tongue fasciculations, Generalized non-motor (absence) seizure, Seizure, Dysmetria, Babinski sign... |
OMIM:618170 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
| Febrile Seizures, Familial, 11 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... |
OMIM:614418 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Spasticity, Seizure, Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
| Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Spasticity, Involuntary movements, Seizure, Inability to walk, Dystonia,... |
OMIM:617820 |
| Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Hyperprolinemia, Type I |
|
Seizure, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy, Status epilepticus |
OMIM:239500 |
| Intellectual Developmental Disorder, Autosomal Dominant 46 |
|
Tonic seizure, Infantile spasms, Focal impaired awareness seizure, Seizure |
OMIM:617601 |
| Developmental And Epileptic Encephalopathy 99 |
|
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... |
OMIM:619606 |
| Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility |
ORPHA:98797 |
| Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, Dysmetria, Babinski ... |
ORPHA:93952 |
| Spastic Paraparesis And Deafness |
|
Hypogonadism, Spastic paraparesis, Hearing impairment, Tremor |
OMIM:312910 |
| Foxg1 Syndrome |
|
Spasticity, Difficulty walking, Bruxism, Inability to walk, Infantile spasms, Myoclonus, Focal-on... |
ORPHA:561854 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Spasticity, Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior,... |
ORPHA:208441 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... |
OMIM:616053 |
| Spinocerebellar Ataxia Type 37 |
|
Falls, Somatic sensory dysfunction, Myoclonus, Cogwheel rigidity, Tremor, Limb dysmetria, Gait di... |
ORPHA:363710 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Falls, Gait ataxia, Dysmetria, Rigidity, Dystonia, Bilateral tonic-clonic seizure, Unsteady gait |
OMIM:203740 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Tip-toe gait, Seizure, Frequent falls, Inability to walk, Abnormal posturing, General... |
ORPHA:216866 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder, Intention tremor, Bilateral tonic-clonic seizure |
OMIM:617863 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Self-injurious behavior, Spasticity, Involuntary movements, Chorea, Infantile spasms, Hyperkineti... |
OMIM:617493 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Oppositional defiant disorder, Dysmetria, Tremor, Impaired tandem gait, Bilateral toni... |
OMIM:619028 |
| Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor |
OMIM:618866 |
| Polymyoclonus, Infantile |
|
Myoclonus, Irritability, Ataxia |
OMIM:263550 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonic seizure, Typical absence seizure, Atonic seizure, Seizure, Inability to wal... |
ORPHA:168491 |
| Isochromosomy Yq |
|
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... |
ORPHA:98798 |
| Developmental And Epileptic Encephalopathy 27 |
|
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Bil... |
OMIM:616139 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Spastic paraparesis, Generalized myoclonic seizure, Myoclonus, Dysmetria, Spastic ata... |
OMIM:614487 |
| Seizures, Benign Familial Infantile, 1 |
|
Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ... |
OMIM:601764 |
| Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsin... |
OMIM:619911 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
| Lissencephaly 3 |
|
Seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia |
OMIM:611603 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Seizure, Abnormal posturing, Hemipl... |
ORPHA:225147 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Depression, Seizure, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal p... |
OMIM:213600 |
| Developmental And Epileptic Encephalopathy 18 |
|
Aortic regurgitation, Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-o... |
OMIM:615476 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Developmental And Epileptic Encephalopathy 11 |
|
Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil... |
OMIM:613721 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
| Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... |
ORPHA:101108 |
| Developmental And Epileptic Encephalopathy 63 |
|
Myoclonic seizure, Cerebral palsy, Seizure, Inability to walk, Generalized-onset seizure, Epilept... |
OMIM:617976 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor |
OMIM:611092 |
| Isolated Focal Cortical Dysplasia |
|
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... |
ORPHA:65683 |
| Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Generalized non-motor (absence) seizure, Seizure, Obesity, Stereotypical hand wringing, Hypertoni... |
OMIM:619854 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Tremor, Ataxia |
OMIM:611105 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyra... |
OMIM:607317 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperactivity, Ata... |
OMIM:615924 |
| Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor |
ORPHA:423296 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia |
OMIM:615957 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Focal autonomic seizure, Depression, Generalized-onset seizure, Bilateral tonic-clonic seizure wi... |
ORPHA:101046 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Seizure, Myoclonus, Tremor, Irritability, Hypertonia, Dystonia, Dysphagia, Choreoathetosis |
OMIM:261630 |
| Severe Canavan Disease |
|
Spasticity, Oral-pharyngeal dysphagia, Seizure, Inability to walk, Irritability, Babinski sign, L... |
ORPHA:314911 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Seizure, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Moto... |
OMIM:619470 |
| X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Apraxia, Seizure, Ataxia |
ORPHA:85338 |
| Dystonia 11, Myoclonic |
|
Depression, Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive beh... |
OMIM:159900 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Generalized non-motor (absence) seizure, Inability to walk, Infantile spasms, Myoclonus, Generali... |
ORPHA:411986 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... |
ORPHA:79262 |
| Developmental And Epileptic Encephalopathy 53 |
|
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilate... |
OMIM:617389 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Seizure, Bruxism, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Dysphagia,... |
OMIM:617435 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Infantile spasms... |
OMIM:619616 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Depression, Generalized non-motor (absence) seizure, Seizure, Inability to wa... |
OMIM:300260 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Hand tremor, Myoclonus, Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clo... |
OMIM:608105 |
| Malignant Migrating Focal Seizures Of Infancy |
|
Myoclonic seizure, Focal impaired awareness seizure, Failure to thrive, Inability to walk, Epilep... |
ORPHA:293181 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:247100 |
| Dystonia 12 |
|
Depression, Bradykinesia, Emotional lability, Tremor, Dystonia, Parkinsonism, Torticollis, Unstea... |
OMIM:128235 |
| Juvenile Huntington Disease |
|
Broad-based gait, Depression, Seizure, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia, Irrita... |
ORPHA:248111 |
| Lafora Disease |
|
Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Foca... |
ORPHA:501 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... |
ORPHA:251282 |
| Immunodeficiency 48 |
|
Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p... |
OMIM:269840 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Benign Familial Neonatal-Infantile Seizures |
|
Neonatal seizure, Episodic ataxia, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic se... |
ORPHA:140927 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Spasticity, Seizure, Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Pyridoxine-Dependent Epilepsy |
|
Focal aware motor seizure, EEG with generalized epileptiform discharges, Focal myoclonic seizure,... |
ORPHA:3006 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Generalized myoclonic seizure |
ORPHA:79156 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia, Dysphagia |
ORPHA:309169 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Limb myoclonus, Focal myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:263516 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor |
ORPHA:308 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Myoclonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure |
OMIM:619964 |
| Atypical Rett Syndrome |
|
Spasticity, Loss of ambulation, Involuntary movements, Neonatal seizure, Limb myoclonus, Inabilit... |
ORPHA:3095 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Focal impaired awareness seizure, Seizure, Head tremor, Infantile spasms, Tonic seizure, Bilatera... |
OMIM:619428 |
| Alpers-Huttenlocher Syndrome |
|
Spasticity, Spastic paraparesis, Myoclonus, Focal-onset seizure, Paraparesis, Bilateral tonic-clo... |
ORPHA:726 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Seizure, Obesit... |
ORPHA:3077 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Infantile spasms, Tremor, Ataxia, Small for gestational age |
OMIM:278780 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Involuntary movements, Focal sensory seizure with somatosensory fea... |
ORPHA:1929 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Infantile Cerebellar-Retinal Degeneration |
|
Failure to thrive, Decreased body weight, Bilateral tonic-clonic seizure, Ataxia, Athetosis, Foca... |
OMIM:614559 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturban... |
ORPHA:314632 |
| Paroxysmal Kinesigenic Dyskinesia |
|
Involuntary movements, Seizure, Chorea, Focal sensory seizure, Writer's cramp, Dystonia, Athetosis |
ORPHA:98809 |
| Developmental And Epileptic Encephalopathy 41 |
|
Spasticity, Myoclonic seizure, Tetraparesis, Inability to walk, Epileptic spasm, Irritability, St... |
OMIM:617105 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia |
ORPHA:2589 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spasticity, Spastic paraparesis, Generalized myoclonic seizure, Myoclonus, Dysmetria, Oculomotor ... |
ORPHA:313772 |
| Developmental And Epileptic Encephalopathy 47 |
|
Inability to walk, Limb ataxia, Focal-onset seizure, Tonic seizure, Gait disturbance, Bilateral t... |
OMIM:617166 |
| Hartnup Disorder |
|
Seizure, Episodic ataxia, Emotional lability, Generalized tonic seizure, Attention deficit hypera... |
OMIM:234500 |
| Spinocerebellar Ataxia Type 10 |
|
Depression, Focal impaired awareness seizure, Generalized-onset seizure, Gait imbalance, Gait ata... |
ORPHA:98761 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus |
ORPHA:494526 |
| Alternating Hemiplegia Of Childhood 2 |
|
Seizure, Hemiplegia, Tetraplegia, Ataxia, Status epilepticus, Dystonia, Episodic quadriplegia, Ch... |
OMIM:614820 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Seizure, Failure to thrive, Tremor, Ataxia |
OMIM:618951 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis, Spastic di... |
OMIM:617270 |
| Developmental And Epileptic Encephalopathy 28 |
|
Spasticity, Generalized non-motor (absence) seizure, Seizure, Focal clonic seizure, Epileptic spa... |
OMIM:616211 |
| Tubulinopathy-Associated Dysgyria |
|
Generalized non-motor (absence) seizure, Infantile spasms, Startle-induced seizure, Attention def... |
ORPHA:467166 |
| Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Focal impaired awareness seizure |
OMIM:616193 |
| Immunodeficiency 116 |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Inability to walk, Inappropriate laughter, Emotional lability, Tremor, Self-mutilation, Aggressiv... |
OMIM:616269 |
| Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spasticity, Somatic sensory dysfunction, Pseudobulbar paralysis, Emotional lability, Hemiparesis,... |
ORPHA:199354 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Generalized-onset seizure, Loss of am... |
OMIM:620166 |
| Developmental And Epileptic Encephalopathy 32 |
|
Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... |
OMIM:616366 |
| Urocanase Deficiency |
|
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia |
OMIM:276880 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea |
OMIM:611031 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Tremor, Vocal c... |
OMIM:158580 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis |
OMIM:125370 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Small for gestational age, Seizure, Tremor, Rigidity, Dystonia, Irritability, Parkinsonism, Limb ... |
OMIM:261640 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Spasticity, Focal myoclonic seizure, Progressive spastic paraplegia, Seizure, Difficulty walking,... |
ORPHA:464282 |
| Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Spasticity, Failure to thrive, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Bila... |
OMIM:616281 |
| Sarcosinemia |
|
Ataxia, Emotional lability, Bilateral tonic-clonic seizure, Tetraparesis |
ORPHA:3129 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Depression, Abnormal posturing, Generalized dystonia, Inability to walk, Tremor, B... |
OMIM:128100 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... |
OMIM:260300 |
| Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Seizure, Difficulty walking, Inability to walk, Myoclonus, Lethargy, Ataxia, Dystonia |
OMIM:617829 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Hearing impairment, Tremor, Abnormality of extrapyramidal motor function, Optic di... |
OMIM:165300 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines |
OMIM:300425 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
| Kohlschutter-Tonz Syndrome |
|
Spasticity, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure |
OMIM:226750 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Self-injurious behavior, Spasticity, Myoclonic seizure, Oculogyric crisis, Seizure, Inability to ... |
OMIM:614254 |
| Developmental And Epileptic Encephalopathy 12 |
|
Spasticity, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:613722 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Failure to thrive, Seizure, Generalized-onset seizure, Self-mutilation, Hemiparesis, Aggressive b... |
OMIM:604317 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Motor stereotypy |
OMIM:606053 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive c... |
ORPHA:98763 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure |
OMIM:617787 |
| Huntington Disease |
|
Oral-pharyngeal dysphagia, Difficulty walking, Polyphagia, Weight loss, Clonus, Bradykinesia, Poo... |
ORPHA:399 |
| Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Inability to walk, Broad-based gait, Infantile spasms, Bilateral tonic-clonic seizure |
OMIM:618470 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Seizure, Impaired vibration sensation in the lower limbs, Tremor, Babinski si... |
OMIM:600363 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Obesity, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:620270 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Seizure, Tremor, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:300983 |
| Seizures, Benign Familial Infantile, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni... |
OMIM:607745 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Depression, Seizure, Chorea, Limb ataxia, Positive Romberg sign, Myoclonus, Dys... |
OMIM:607136 |
| Huntington Disease-Like 1 |
|
Depression, Incoordination, Chorea, Dysmetria, Rigidity, Aggressive behavior, Unsteady gait, Rest... |
OMIM:603218 |
| Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Motor stereotypy, Generalized myoclonic seizure, Seizure |
OMIM:616341 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
| Familial Infantile Myoclonic Epilepsy |
|
Blepharospasm, Limb myoclonus, Seizure, Focal-onset seizure, Clumsiness, Bilateral tonic-clonic s... |
ORPHA:352582 |
| Spinocerebellar Ataxia 35 |
|
Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins... |
OMIM:613908 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Seizure, Myoclonus, Rigidity, Ataxia, Intention tremor |
OMIM:618876 |
| Spinocerebellar Ataxia 12 |
|
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokines... |
OMIM:604326 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Depression, Seizure, Tremor, Self-mutilation, Hyperkinetic movements, Gait disturbance, Bilateral... |
ORPHA:457240 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Myoclonic seizure, Focal impaired awareness seizure, Inability to walk, Epileptic spasm, Recurren... |
OMIM:619580 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... |
ORPHA:101110 |
| Spinal Muscular Atrophy, Jokela Type |
|
Difficulty walking, Distal sensory impairment, Tremor, Fasciculations |
OMIM:615048 |
| Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
| Familial Focal Epilepsy With Variable Foci |
|
Paresthesia, Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizures, Bilateral t... |
ORPHA:98820 |
| Liang-Wang Syndrome |
|
Dystonia, Status epilepticus, Generalized non-motor (absence) seizure, Ataxia |
OMIM:618729 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| Autism |
|
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines |
OMIM:209850 |
| Corticobasal Syndrome |
|
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... |
ORPHA:454887 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines |
OMIM:607373 |
| Spinocerebellar Ataxia 29 |
|
Truncal titubation, Broad-based gait, Focal impaired awareness seizure, Limb ataxia, Gait ataxia,... |
OMIM:117360 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal lethargy, Spasticity, Seizure, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski s... |
OMIM:606777 |
| Hyperprolinemia Type 2 |
|
Depression, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-o... |
ORPHA:79101 |
| Harel-Yoon Syndrome |
|
Spasticity, Generalized non-motor (absence) seizure, Inability to walk, Ataxia, Dystonia |
OMIM:617183 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonic seizure, Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Bilateral tonic-cl... |
OMIM:619092 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Decreased proportion ... |
OMIM:617241 |
| Benign Familial Neonatal Epilepsy |
|
Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal EEG discharges with secondary ge... |
ORPHA:1949 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... |
OMIM:128230 |
| Cdkl5-Deficiency Disorder |
|
Impaired pain sensation, Difficulty walking, Bruxism, Inappropriate laughter, Infantile spasms, S... |
ORPHA:505652 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
| Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
| Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Spasticity, Generalized non-motor (absence) seizure, Bruxism, Chorea, Focal i... |
OMIM:620149 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Dysphagia, In... |
OMIM:302500 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Spastic paraplegia, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Spastic gait |
OMIM:615031 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Spasticity, Myoclonic absence seizure, Failure to thrive, Seizure, Incoordination, Clonus, Tetrap... |
OMIM:616034 |
| Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
| Spinocerebellar Ataxia Type 12 |
|
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abn... |
ORPHA:98762 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Generalized non-motor (absence) seizure, Seizure, Clumsiness, Aggressive behavior, Hyperactivity,... |
OMIM:300558 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Spasticity, Broad-based gait, Seizure, Difficulty walking, Inability to ... |
OMIM:617695 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Spasticity, Seizure, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Bila... |
ORPHA:529665 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Generalized non-motor (absence) seizure, Generalized-onset seizure, Bila... |
OMIM:615637 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Failure to thrive, Generalized non-motor (absence) seizure, Bulimia, Atonic seizure, Bruxism, Ste... |
OMIM:300912 |
| Developmental And Epileptic Encephalopathy 4 |
|
Spastic paraplegia, Spastic tetraplegia, Epileptic spasm, Tremor, Generalized tonic seizure, Bila... |
OMIM:612164 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Focal impaired awareness seizure, Generalized non-motor (absence) seizure |
OMIM:616521 |
| Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina... |
ORPHA:391411 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
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Seizure, Generalized non-motor (absence) seizure |
OMIM:616033 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
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Inappropriate behavior, Myoclonus, Disinhibition, Rigidity, Aggressive behavior, Babinski sign, G... |
OMIM:600795 |
| Spinocerebellar Ataxia Type 27 |
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Depression, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Aggressi... |
ORPHA:98764 |
| Parkinsonism With Polyneuropathy |
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Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... |
OMIM:619279 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
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Spastic paraplegia, Broad-based gait, Failure to thrive, Seizure, Febrile seizure (within the age... |
ORPHA:477673 |
| Hypoglycemia, Leucine-Induced |
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Spasticity, Irritability, Seizure, Ataxia |
OMIM:240800 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
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Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Loss of ambulation, Parkinsonis... |
OMIM:204200 |
| Phenylketonuria |
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Depression, Seizure, Tremor, Lower limb spasticity, Ataxia |
ORPHA:716 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Broad-based gait, Seizure, Gait imbalance, Bilateral tonic-clonic seizure with generalized onset,... |
ORPHA:98795 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
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Spasticity, Depression, Seizure, Focal-onset seizure, Tremor, Hemiparesis, Ataxia, Status epilept... |
OMIM:614307 |
| Parkinson Disease 19A, Juvenile-Onset |
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Spasticity, Shuffling gait, Pill-rolling tremor, Seizure, Rigidity, Loss of ambulation, Dystonia,... |
OMIM:615528 |
| Pitt-Hopkins-Like Syndrome 1 |
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Spasticity, Focal impaired awareness seizure, Status epilepticus, Generalized-onset seizure, Aggr... |
OMIM:610042 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
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Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
| Infantile Neuronal Ceroid Lipofuscinosis |
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Spasticity, Seizure, Generalized-onset seizure, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, C... |
ORPHA:79263 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
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Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait |
OMIM:615768 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
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Dystonia, Myoclonus, Tremor, Frequent falls |
OMIM:619647 |
| Congenital Disorder Of Glycosylation, Type Iaa |
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Failure to thrive, Pseudobulbar paralysis, Appendicular spasticity, Bilateral tonic-clonic seizur... |
OMIM:617082 |
| Dystonia 28, Childhood-Onset |
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Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... |
OMIM:617284 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Self-injurious behavior, Spasticity, Seizure, Inability to walk, Bruxism, Tremor, Motor stereotyp... |
OMIM:618718 |
| Parkinson Disease 22, Autosomal Dominant |
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Depression, Resting tremor, Restless legs, Rigidity, Parkinsonism with favorable response to dopa... |
OMIM:616710 |
| Spinocerebellar Ataxia Type 28 |
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Spasticity, Depression, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia,... |
ORPHA:101109 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Self-injurious behavior, Inappropriate behavior, Seizure, Generalized-onset seizure, Aggressive b... |
OMIM:619827 |
| Glut1 Deficiency Syndrome 2 |
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Seizure, Tremor, Irritability, Ataxia, Dystonia, Choreoathetosis |
OMIM:612126 |
| Epilepsy, Familial Adult Myoclonic, 2 |
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Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... |
OMIM:607876 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
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Failure to thrive, Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation |
OMIM:619651 |
| Xq28 (MECP2) duplication |
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Depression, Failure to thrive, Seizure, Inability to walk, Gait ataxia, Dysphagia, Progressive sp... |
DECIPHER:45 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
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Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
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Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
| Raynaud-Claes Syndrome |
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Depression, Seizure, Aggressive behavior, Lower limb spasticity, Compulsive behaviors, Dystonia, ... |
OMIM:300114 |
| Neurodegeneration With Brain Iron Accumulation 8 |
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Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
| Leukoencephalopathy With Calcifications And Cysts |
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Spasticity, Seizure, Emotional lability, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxi... |
ORPHA:542310 |
| Spinocerebellar Ataxia Type 35 |
|
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... |
ORPHA:276193 |
| Developmental And Epileptic Encephalopathy 102 |
|
Generalized myoclonic seizure, Inability to walk, Tonic seizure, Focal emotional seizure with lau... |
OMIM:619881 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Baker-Gordon Syndrome |
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Self-injurious behavior, Involuntary movements, Inability to walk, Athetoid cerebral palsy, Hyper... |
OMIM:618218 |
| Spinocerebellar Ataxia With Epilepsy |
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Depression, Bilateral tonic-clonic seizure with focal onset, Gait ataxia, Myoclonus, Dysmetria, T... |
ORPHA:254881 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
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Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure |
OMIM:266100 |
| Intellectual Developmental Disorder, Autosomal Recessive 57 |
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Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... |
OMIM:617188 |
| Late-Infantile/Juvenile Krabbe Disease |
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Spastic paraparesis, Difficulty walking, Emotional lability, Impaired tactile sensation, Loss of ... |
ORPHA:206443 |
| Myoclonic Epilepsy Of Lafora 1 |
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Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... |
OMIM:254780 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Hearing impairment, Tremor |
OMIM:614369 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Seizure, Positive Romberg sign, Dysmetria, Loss of ambulation, Babinski sign, Ataxia,... |
OMIM:618088 |
| Spastic Paraplegia 78, Autosomal Recessive |
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Spastic paraplegia, Impaired vibratory sensation, Falls, Resting tremor, Gait ataxia, Distal sens... |
OMIM:617225 |
| Gerstmann-Straussler Disease |
|
Spasticity, Depression, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Emotional lability... |
OMIM:137440 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
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Spastic paraparesis, Failure to thrive, Generalized non-motor (absence) seizure, Seizure, Focal-o... |
ORPHA:395 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... |
OMIM:611302 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
| Developmental And Epileptic Encephalopathy 93 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to wa... |
OMIM:618012 |
| X-Linked Non Progressive Cerebellar Ataxia |
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Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int... |
ORPHA:314978 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity, Seizure |
OMIM:300271 |
| Spinocerebellar Ataxia 23 |
|
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Bab... |
OMIM:610245 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Seizure, Myoclonus, Tremor, Generalized tonic seizure, Abnormal pyr... |
OMIM:612016 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Seizure, Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, Ataxia, Dysdiadochoki... |
OMIM:256731 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Dysphagia, Im... |
ORPHA:276435 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
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Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Focal-... |
ORPHA:289266 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility, Progressive cerebellar ataxia |
ORPHA:276183 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
| Developmental And Epileptic Encephalopathy 98 |
|
Refractory status epilepticus, Focal-onset seizure, Attention deficit hyperactivity disorder, Clo... |
OMIM:619605 |
| Unilateral Focal Polymicrogyria |
|
EEG with frontal focal spikes, Seizure, Abnormality of somatosensory evoked potentials, Bilateral... |
ORPHA:268947 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Spasticity, Seizure, Chorea, Bilateral tonic-clonic seizure, Status epilepticus, Dystonia, Focal ... |
OMIM:613970 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Seizure, Bruxism, Obesit... |
OMIM:300055 |
| Chromosome 3Q29 Deletion Syndrome |
|
Failure to thrive, Gait ataxia, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for g... |
OMIM:609425 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia, Ataxia |
OMIM:613909 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... |
OMIM:607671 |
| Spermatogenic Failure 64 |
|
