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Gene: Hcn2 MGI:1298210

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
hyperpolarization-activated, cyclic nucleotide-gated K+ 2
Synonyms:
HAC1,  trls

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hcn2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Hcn2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:602477

The table below shows human diseases predicted to be associated to Hcn2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myoclonic Epilepsy, Progressive
Generalized myoclonic seizure OMIM:310370
Myoclonic Epilepsy, Hartung Type
Generalized myoclonic seizure OMIM:159600
Mental Retardation, X-Linked 89
Generalized myoclonic seizure OMIM:300848
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607628
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607631
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:600669
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Seizure, Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:617924
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:616172
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral t... OMIM:254770
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... OMIM:300088
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:604233
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Agg... ORPHA:98811
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral tonic-clonic seizure ... OMIM:607682
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... OMIM:604403
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:613863
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:613060
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Tremor, Atax... OMIM:617831
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic seizure, Atypical absence seizure, Myoclonic absence seizure OMIM:618596
Epilepsy, Familial Temporal Lobe, 3
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure OMIM:611630
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:609446
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Myoclonus, Tremor, Ataxia, Seizure, Atonic seizure, Diff... OMIM:614018
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... OMIM:618357
Developmental And Epileptic Encephalopathy 57
Seizure, Generalized myoclonic seizure, Atypical absence seizure OMIM:617771
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized ... ORPHA:139426
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Continuous Spikes And Waves During Sleep
Clumsiness, Interictal epileptiform activity, Focal impaired awareness seizure, Seizure, Continuo... ORPHA:725
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Epilepsy, Familial Temporal Lobe, 4
Focal aware seizure, Focal sensory seizure with visual features, Focal impaired awareness seizure OMIM:611631
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:607681
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... OMIM:618587
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordination, Bilateral... ORPHA:86909
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Myocloni... OMIM:615744
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... ORPHA:36387
Landau-Kleffner Syndrome
Focal impaired awareness seizure, Seizure, Anxiety, Nocturnal seizures, Speech apraxia, Slurred s... ORPHA:98818
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral ton... OMIM:616056
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:615369
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Seizures, Benign Familial Infantile, 2
Generalized-onset seizure, Focal-onset seizure OMIM:605751
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Morning myoclonic jerks, Status ep... ORPHA:307
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:1941
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Seizure, Ataxia, Aggressive behavior, Slender build OMIM:617709
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Bilateral tonic-clonic seizure, Bradykinesia, Tremor, Ataxia, Generalized myo... OMIM:617836
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Myoclonus, Falls, Hyperactivity, Atonic seiz... ORPHA:2382
Spastic Ataxia With Congenital Miosis
Seizure, Ataxia, Spastic ataxia, Hemiplegia/hemiparesis ORPHA:1182
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Bilateral tonic-clonic seizure, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movem... OMIM:618425
Developmental And Epileptic Encephalopathy 56
Poor coordination, Seizure, Ataxia, Status epilepticus, Broad-based gait, Anxiety, Attention defi... OMIM:617665
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Aggressive behavior, Lower limb spasticity, Inability to walk, At... OMIM:619639
Developmental And Epileptic Encephalopathy 6B
Dystonia, Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Chore... OMIM:619317
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... ORPHA:306
N-Acetylaspartate Deficiency
Self-mutilation, Stereotypy, Seizure, Truncal ataxia, Unsteady gait, Decreased body weight OMIM:614063
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), EEG with focal epileptiform discha... ORPHA:139431
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Visually-induced seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Myoclonus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:254800
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Anxiety, Attention deficit hyperact... OMIM:619191
Neuropathy, Hereditary Sensory, Atypical
Babinski sign, Ataxia, Sensory ataxia OMIM:256860
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ag... ORPHA:101039
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Bilateral tonic-clonic seizure, Aggressive behavior, Myoclonic seizure, Seizure, Broad-... OMIM:619157
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Tremor, Inability to walk, Atonic s... OMIM:617810
Mental Retardation, Autosomal Recessive 63
Generalized myoclonic seizure OMIM:618095
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Seizure... OMIM:614561
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Self-injurious behavior, Aggressive behavior, Seizure, Hyperactiv... OMIM:271980
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:601068
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Frequent falls... ORPHA:2590
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... OMIM:615400
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Dystonia, Bilateral tonic-clonic seizure, Choreoathetosis, Tetraplegia, Ep... OMIM:104290
Glycosylphosphatidylinositol Biosynthesis Defect 1
Seizure, Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Mitochondrial Complex I Deficiency, Nuclear Type 21
Babinski sign, Ataxia, Difficulty walking, Spasticity, Generalized non-motor (absence) seizure OMIM:618242
Spinocerebellar Ataxia 48
Babinski sign, Dystonia, Cachexia, Bilateral tonic-clonic seizure, Dysmetria, Chorea, Tremor, Ata... OMIM:618093
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Developmental And Epileptic Encephalopathy 52
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Seizure,... OMIM:617350
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:618873
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Small for gestational age, Focal impaired awareness seizure, Spee... OMIM:245570
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:79137
Episodic Ataxia, Type 9
Dystonia, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepti... OMIM:618924
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Bilateral tonic-clonic seizure... ORPHA:382
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Developmental And Epileptic Encephalopathy 67
Athetosis, Gait disturbance, Hypsarrhythmia, Seizure, EEG abnormality, Generalized myoclonic seiz... OMIM:618141
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:611726
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Babinski sign, Gait disturbance, Bilateral tonic-clonic seizure, Lower limb spas... ORPHA:100988
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Gait disturbance, Rigidity, Bilateral tonic-clonic seizure, Falls, Bradykinesia, I... OMIM:300423
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Paresthesia, Bilateral tonic-clonic seizure, Choreoathetosis, Paroxysmal dyskinesia, Ep... ORPHA:53583
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral... OMIM:618917
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Self-injurious behavior,... ORPHA:485350
Dravet Syndrome
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:33069
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Dysmetria, Tremor, Atonic seizure, Generalized myoclonic seizure OMIM:612437
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Seizure, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Typical absence seizure, Bilateral tonic-clonic seizure, Self-injurious behavior, Chore... ORPHA:178469
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Paresthesia, Dysesthesia, Focal he... ORPHA:1945
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Poor coordination, Focal motor status epilepticus, Paroxysmal dyskinesia, Chorea, Aggre... OMIM:619150
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity, Stereotypy OMIM:300271
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Immunodeficiency 17
Failure to thrive, Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia OMIM:615607
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Stereotypy, Seizure, Irritability, Spasticity, Difficulty walking OMIM:617393
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:613608
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Generalized non-motor (absence) seizure, Focal-onset seizure OMIM:615476
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Hand tremor, Somatic sensory dysfunction OMIM:300905
Migraine, Familial Hemiplegic, 1
Hemiparesis, Tremor, Ataxia, Seizure, Hemiplegia, Anxiety OMIM:141500
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:615697
Deafness-Infertility Syndrome
Sensorineural hearing impairment, Male infertility, Azoospermia ORPHA:94064
Dystonia 31
Arm dystonia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized dystonia, Pa... OMIM:619565
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Babinski sign, Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus,... OMIM:619065
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Bilateral Generalized Polymicrogyria
Dystonia, Typical absence seizure, Bilateral tonic-clonic seizure, Infantile spasms, Self-injurio... ORPHA:208447
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk, Seizure, General... OMIM:618090
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tremor, Seizure, Inab... ORPHA:330050
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Self-injurious behavior, Chorea, Inability to walk, Convulsive status epilepticus, Ster... OMIM:618760
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Bilateral tonic-clonic seizure, Abulia, Aggressive behavior, Abnormality of ext... ORPHA:275864
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Myoclonus, Enhancement of the C-... OMIM:615127
Hyperprolinemia, Type I
Aggressive behavior, Stereotypy, Seizure, Hyperactivity, Ataxia, Status epilepticus OMIM:239500
Developmental And Epileptic Encephalopathy 97
Tremor, Seizure, Inability to walk, Stereotypical hand wringing, Epileptic spasm OMIM:619561
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Symmetrical Thalamic Calcifications
Failure to thrive, Seizure, Ataxia, Hypertonia, EEG abnormality, Spasticity, Arrhythmia ORPHA:1314
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus, Seizure OMIM:616366
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Distal sensory impairment, Limb ataxia, Gait ataxia OMIM:617018
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Seizure, ... OMIM:615362
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Rare Non-Syndromic Intellectual Disability
Dystonia, Bilateral tonic-clonic seizure, Seizure, Emotional lability, Spasticity, Difficulty wal... ORPHA:101685
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Gait disturbance, Bilateral tonic-clonic seizure, Frequent falls, Dysmetria, Extra... ORPHA:93952
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:35878
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia, Seizure OMIM:619061
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... OMIM:619338
Myoclonic-Astatic Epilepsy
Simple febrile seizure, Generalized myoclonic-atonic seizure, Tremor, Hyperactivity, Ataxia, Bila... ORPHA:1942
Polymicrogyria, Bilateral Temporooccipital
Seizure, Status epilepticus, Focal impaired awareness seizure OMIM:612691
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, Seizure OMIM:616187
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Glutathionuria
Tremor OMIM:231950
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Myoclonic seizur... OMIM:619616
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Seizure, Stereotypy OMIM:617862
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsoni... ORPHA:401901
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Status epilepticus, Seizure, Spasticity OMIM:614307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Seizure, Ataxia, Attention deficit hyperactivity disorder, Stereotypy OMIM:618709
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Irritability, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Hydroxylysinuria
Generalized myoclonic seizure OMIM:236900
Benign Occipital Epilepsy
Focal impaired awareness seizure ORPHA:25968
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Seizure, Tremor OMIM:611092
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized... ORPHA:101070
Developmental And Epileptic Encephalopathy 58
Stereotypy, Seizure, Inability to walk, Spastic diplegia, Status epilepticus OMIM:617830
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Failure to thrive, Myoclonus, Status epilepticus... OMIM:609056
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, Poor coordination, Abnormality of pain sensation, Eating-induced seizure, Tremo... ORPHA:544254
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Gait disturbance, Akinetic mutism, Pseudobulbar paralysis, Rigidity, Abulia, Bilateral tonic-clon... ORPHA:199354
Deafness, Congenital, And Familial Myoclonic Epilepsy
Generalized myoclonic seizure, Myoclonus OMIM:220300
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Ataxia, Generalized myoclonic seizure, Myoclonus OMIM:208700
Developmental And Epileptic Encephalopathy 34
Focal hemiclonic seizure, Seizure, Inability to walk, Status epilepticus, Bilateral tonic-clonic ... OMIM:616645
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear/anxiety-related behavior, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, S... ORPHA:208441
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Decr... ORPHA:399805
Choreoathetosis, Familial Inverted
Gait disturbance, Rigidity, Progressive choreoathetosis, Seizure, Abnormal pyramidal sign OMIM:118750
Myoclonus, Familial, 1
Ataxia, Myoclonus, Falls, Frequent falls OMIM:614937
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609253
Alpers-Huttenlocher Syndrome
Progressive spasticity, Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Paraparesis, ... ORPHA:726
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Generalized-onset seizure, Focal-onset seizure, Anxiety, Paroxysmal choreoat... OMIM:602066
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome
Clumsiness, Involuntary movements, Mood swings, Gait imbalance, Abnormality of pain sensation, Ag... ORPHA:468620
Spinocerebellar Ataxia Type 37
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... ORPHA:363710
Atypical Teratoid Rhabdoid Tumor
Cerebral palsy, Apathy, Seizure, Ataxia, Irritability, Hemiplegia/hemiparesis ORPHA:99966
Intellectual Developmental Disorder With Seizures And Language Delay
Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure, EEG with spike-wave co... OMIM:619000
Dysequilibrium Syndrome
Cerebral palsy, Ataxia, Gait disturbance, Seizure ORPHA:1766
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Typical absence seizure, Bilateral tonic-clonic seizure, Focal tonic seizure, A... ORPHA:168491
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Myoclonus, Focal hemifacial clonic seizure, Seizure, Tremor,... OMIM:608105
Intellectual Developmental Disorder, X-Linked 30
Clumsiness, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Hyperactivity, Anxiety,... OMIM:300558
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401840
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Carnosinemia
Generalized myoclonic seizure OMIM:212200
Dystonia 23
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Arrhythmia... OMIM:614860
Polymyoclonus, Infantile
Ataxia, Myoclonus, Irritability OMIM:263550
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic ataxia, Oculomotor apraxi... OMIM:614487
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... OMIM:608096
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Stereotypy OMIM:616341
Severe Canavan Disease
Babinski sign, Bilateral tonic-clonic seizure, Seizure, Decerebrate rigidity, Inability to walk, ... ORPHA:314911
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spastic Paraparesis And Deafness
Tremor, Hypogonadism, Spastic paraparesis, Hearing impairment OMIM:312910
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Seizure OMIM:617113
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... OMIM:601764
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Seizure, Broad-base... OMIM:619470
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia ORPHA:98797
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Spinocerebellar Ataxia Type 31
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity ORPHA:217012
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Huntington Disease-Like 1
Clumsiness, Involuntary movements, Gait disturbance, Frequent falls, Dysmetria, Chorea, Weight lo... ORPHA:157941
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Seizure, Spast... OMIM:615528
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Myoclonus, Seizure, Ataxia, Hypertonia OMIM:612736
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Gait disturbance, Violent behavior, Rigidity, Frequent falls, Chorea, O... ORPHA:216873
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus, Generalized-onset seizure, EEG abnormality, Focal-onset seizure ORPHA:86814
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Dystonia, Choreoathetosis, Tetraplegia, Ataxia, Seizure, Status epilepticu... OMIM:614820
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Seizure, Spa... ORPHA:79262
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Agoraphobia, Myoclonus, Tremor, Anxiety OMIM:159900
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Seizure, Ataxia, Apraxia ORPHA:85338
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Seizure, Tetraparesis, Spasticity, Abnormal p... OMIM:615924
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia... ORPHA:95434
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Rigidity, Choreoathetosis, Small for gestational age, Bradykinesia, Tremor, Ataxia, Hyp... OMIM:261640
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
Cerebellar Ataxia, Cayman Type
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Gait ataxia ORPHA:94122
Pyridoxine-Dependent Epilepsy
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Hypsarrhythmia, EEG... ORPHA:3006
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Gait disturbance, Tremor OMIM:300660
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Myoclonus, Tremor, Seizure, Hypertonia, Irritability OMIM:261630
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Myoclonus, Focal impaired awareness seizure, Stereotypy, Inability to walk, Ato... ORPHA:411986
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:263516
Foxg1 Syndrome
Dystonia, Bilateral tonic-clonic seizure, Choreoathetosis, Infantile spasms, Myoclonus, Stereotyp... ORPHA:561854
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Developmental And Epileptic Encephalopathy 38
Dystonia, Ataxia, Hypertonia, Status epilepticus OMIM:617020
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Bilateral tonic-clonic seizure, Lower limb spasticity, Seizure, Ataxia, Generalized myo... ORPHA:464282
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Seizure, Failure to thrive OMIM:618951
Lafora Disease
Gait disturbance, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Se... ORPHA:501
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Seizure, Craniofacial dystonia, Resting tremor, Emotional lability, Pa... ORPHA:71517
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Spinocerebellar Ataxia Type 23
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... ORPHA:101108
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Stereotypy DECIPHER:8
Rasmussen Subacute Encephalitis
Involuntary movements, Hemidystonia, Generalized convulsive status epilepticus, Focal impaired aw... ORPHA:1929
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Opisthotonus, Frequent falls, Weight loss, Seizure, Inability to walk, Generali... ORPHA:216866
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic dysarthria, Oculomotor ap... ORPHA:313772
Sarcosinemia
Ataxia, Bilateral tonic-clonic seizure, Emotional lability, Tetraparesis ORPHA:3129
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia, Bilateral toni... OMIM:619028
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity... OMIM:612716
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Progressive cerebellar ataxia, Difficulty walking, Abnormal pyramidal sign ORPHA:85292
Pontocerebellar Hypoplasia, Type 11
Happy demeanor, Poor coordination, Stereotypy, Seizure, Ataxia, Inability to walk, Decreased body... OMIM:617695
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:613839
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Status epilepticus, Spastic tetraplegia OMIM:613721
Familial Infantile Myoclonic Epilepsy
Clumsiness, Gait disturbance, Simple febrile seizure, Limb myoclonus, Bilateral tonic-clonic seiz... ORPHA:352582
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... ORPHA:251282
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Sporadic Infantile Bilateral Striatal Necrosis
Babinski sign, Gait disturbance, Dystonia, Chorea, Bradykinesia, Seizure, Atypical absence status... ORPHA:225147
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Generalized myoclonic seizure ORPHA:79156
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Tremor, Ataxia, Seizure, Incoordination, Unsteady gait, Abnormal pyramidal sign OMIM:614947
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Aggressive behavior, Bilateral tonic-clonic seizure OMIM:603204
Atypical Rett Syndrome
Involuntary movements, Gait disturbance, Dystonia, Panic attack, Limb myoclonus, Infantile spasms... ORPHA:3095
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Obesity, Aggressive behavior, Shuffling gait, Lower limb ... ORPHA:3077
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:605021
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Dysmetria, Tremor, Oculomotor apraxia, Seizure, Status epilepticu... ORPHA:529665
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Hyperactivity, Poor fine motor coordination, Attention deficit hyperactivity disorde... OMIM:617182
Liang-Wang Syndrome
Dystonia, Ataxia, Status epilepticus, Generalized non-motor (absence) seizure OMIM:618729
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Impaired vibration sensation ... OMIM:600363
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Mood swings, Limb hypertonia, Opisthotonus, Happy demeanor, Choreoathetosis, Tonic seizure, Bilat... OMIM:619580
Seizures, Benign Familial Neonatal, Autosomal Recessive
Hypertonia, Bilateral tonic-clonic seizure OMIM:269720
Cln5 Disease
Clumsiness, Poor gross motor coordination, Seizure, Dysmetria, Aggressive behavior, Tremor, Ataxi... ORPHA:228360
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Intellectual Developmental Disorder, Autosomal Recessive 47
Focal impaired awareness seizure OMIM:616193
Developmental And Epileptic Encephalopathy 12
Generalized-onset seizure, Focal-onset seizure OMIM:613722
Infantile Convulsions And Choreoathetosis
Athetosis, Involuntary movements, Normal interictal EEG, Dystonia, Choreoathetosis, Chorea, Parox... ORPHA:31709
Developmental And Epileptic Encephalopathy 92
Dystonia, Myoclonus, Seizure, Ataxia, Inability to walk, Spasticity, Difficulty walking, Lethargy OMIM:617829
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Failure to thrive, Aggressive behavior, Stereotypy, Hyperactivity, Anx... OMIM:609425
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Failure to thrive, Bilateral tonic-clonic seizure, Spasticity OMIM:616281
Huntington Disease-Like 2
Dystonia, Rigidity, Chorea, Weight loss, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety OMIM:606438
Harel-Yoon Syndrome
Ataxia, Inability to walk, Generalized non-motor (absence) seizure, Spasticity OMIM:617183
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Somatic sen... ORPHA:98763
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Pontocerebellar Hypoplasia, Type 14
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Spastic tetraplegi... OMIM:619301
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Isolated Focal Cortical Dysplasia
Infantile spasms, Nocturnal seizures, Focal impaired awareness seizure, Seizure, Bilateral tonic-... ORPHA:65683
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Choreoathetosis, Self-injurious behavior, Stereotypy, Ataxia, In... OMIM:618218
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonus, Abnormality of extrapyramidal motor function, Seizure, Ataxia, Parkinsonism OMIM:162350
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... OMIM:607745
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Tremor, Ataxia, Hyperactivity, Seizure, Spasticity OMIM:300983
Dentatorubral-Pallidoluysian Atrophy
Choreoathetosis, Chorea, Myoclonus, Seizure, Ataxia, Abnormal pyramidal sign OMIM:125370
Spinocerebellar Ataxia Type 10
Babinski sign, Kinetic tremor, Gait imbalance, Dysmetria, Aggressive behavior, Apathy, Lower limb... ORPHA:98761
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal autonomic seizure, Bilateral tonic-clon... ORPHA:101046
Spinocerebellar Ataxia, Autosomal Recessive 12
Babinski sign, Seizure, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:614322
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Seizure, Ataxia ORPHA:404493
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Tonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal impaired awareness seizure... OMIM:619428
Leukodystrophy, Hypomyelinating, 16
Dystonia, Dysmetria, Intention tremor, Seizure, Hypertonia, Broad-based gait, Abnormal pyramidal ... OMIM:617964
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Carnosinase Deficiency
Generalized myoclonic seizure ORPHA:1361
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Bilateral tonic-clonic seizure, Self-mutilation, Stereot... ORPHA:457240
Unilateral Focal Polymicrogyria
Spastic hemiparesis, Aggressive behavior, Focal impaired awareness seizure, Focal motor seizure, ... ORPHA:268947
Juvenile Huntington Disease
Dystonia, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Seizure, Progressive cerebellar... ORPHA:248111
Epilepsy, Progressive Myoclonic, 11
Rigidity, Myoclonus, Intention tremor, Seizure, Ataxia OMIM:618876
Hypoglycemia, Leucine-Induced
Seizure, Ataxia, Irritability, Spasticity OMIM:240800
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Spastic tetraplegia, Hypertonia, Generalized... OMIM:618677
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Seizure, Hyperactivity, Generalized-onset seizure, Spasticity, Foca... ORPHA:88616
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Coenzyme Q10 Deficiency, Primary, 4
Myoclonus, Tremor, Ataxia, Seizure, Abnormal pyramidal sign OMIM:612016
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Intellectual Developmental Disorder, X-Linked 98
Tonic seizure, Self-biting, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior... OMIM:300912
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Shuffling gait, Bradykinesia, Falls, Apathy, Resting tremor, Short stepped shuffling ga... ORPHA:306692
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Ataxia, Gait ataxia, Seizure OMIM:615705
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Hearing impairmen... OMIM:165300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Gait disturbance, Babinski sign, Dystonia, Rigidity, Aggressive behavior, Myoclonus, Apathy, Ster... OMIM:600795
Intellectual Developmental Disorder, Autosomal Recessive 58
Choreoathetosis, Self-injurious behavior, Aggressive behavior, Stereotypy, Spastic diplegia OMIM:617270
Myoclonic Epilepsy Of Lafora
Gait disturbance, Bilateral tonic-clonic seizure, Myoclonus, Bilateral tonic-clonic seizure with ... OMIM:254780
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Paresthesia, Bilateral tonic-clonic seizure, Nocturnal seizures, Infantil... ORPHA:98820
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Seizure, Rest... ORPHA:391411
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Bilateral tonic-clonic seiz... OMIM:619092
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Bilateral tonic-clonic seizure, Tongue thrusting, Seizure, Bilateral tonic-clonic... ORPHA:98795
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady gait, Limb ataxia OMIM:615768
Glut1 Deficiency Syndrome 1
Paralysis, Babinski sign, Paroxysmal dystonia, Choreoathetosis, Myoclonus, Paroxysmal lethargy, H... OMIM:606777
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure, Chorea, Waddling gait, Truncal ataxia, Difficulty walking ORPHA:369840
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Pontocerebellar Hypoplasia, Type 15
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Spastic tetraplegi... OMIM:619302
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Rigidity, Tonic seizure, Chorea, Lower limb spasticity, Stereotypy, Repet... OMIM:300260
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Involuntary movements, Gait disturbance, Dystonia, Chorea, Myoclonus, Ataxia, Craniofacial dyston... OMIM:617282
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... ORPHA:101110
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Tremor by anatomical site, Bradykinesia, Intenti... ORPHA:98762
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Torticollis, Intention tremor, Hypergonadotropic hypogonadism, Head tremor OMIM:613724
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Gait disturbance, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Failur... ORPHA:395
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Stereotypy, Seizure, Anxiety, Attention deficit hyperactivity disorder OMIM:618906
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... ORPHA:399808
X-Linked Non-Syndromic Intellectual Disability
Babinski sign, Bilateral tonic-clonic seizure, Small for gestational age, Seizure, Obesity, Atten... ORPHA:777
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Myoclonus, Fasciculations, Tremor, Seizure, Generalized-onset seizure, Tongue fas... OMIM:159950
Spinocerebellar Ataxia 12
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head... OMIM:604326
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Gait ataxia, Gait imbalance, Bilateral tonic-clonic seizure ORPHA:488635
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Impaired tandem gait, Dysdiadochokinesis, Nonprogressive cerebellar ... OMIM:117360
Autism
Seizure, Stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Seizure, Stereotypy OMIM:300496
Autism, Susceptibility To, 8
Seizure, Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Seizure, Stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Stereotypy OMIM:608636
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... OMIM:270500
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Febrile seizure (within the age range of 3 months to 6 years), Failure to thrive, ... ORPHA:477673
Homocystinuria Without Methylmalonic Aciduria
Seizure, Ataxia, Failure to thrive, Lethargy ORPHA:622
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Spastic tetraplegia, Stereotypy, Seizure, Clonic seizure, Hypertonia OMIM:615282
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Myoclonus, Tremor, Ataxia, Blepharospasm OMIM:607876
Mental Retardation With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Self-injurious behavior, Obesity, Aggressive behavior, Speech aprax... OMIM:613670
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Stereotypy, Seizure, Hyperactivity, Ataxia, Generalized-onset seizure, Spast... OMIM:610042
Infantile Cerebellar-Retinal Degeneration
Athetosis, Bilateral tonic-clonic seizure, Failure to thrive, Ataxia, Focal-onset seizure, Decrea... OMIM:614559
His Bundle Tachycardia
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myoclonus, Seizure, Ataxia, Spasticity, Generalized myoclonic seizure OMIM:545000
Dopa-Responsive Dystonia
Seizure, Irritability, Panic attack, Anxiety, Oculogyric crisis, Generalized tonic seizure, Letha... ORPHA:255
Gordon Holmes Syndrome
Ataxia, Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea OMIM:212840
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Unilateral Hemispheric Polymicrogyria
Focal atonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Hemiparesis, Focal-onset ... ORPHA:101071
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... ORPHA:314978
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Stereotypy, Tremor, Hyperactivity, Inability to walk, Seizure, Spasticity OMIM:618718
Paralysis Agitans, Juvenile, Of Hunt
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spinocerebellar Ataxia 19
Postural tremor, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia, Truncal ataxia, Lim... OMIM:607346
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Rigidity, Aggressive behavior, Abnormality of extrapyramidal motor function, Bradykines... OMIM:300894
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Aggressive behavior, Falls, Bradykinesia, Spastic tetraplegia, Dista... OMIM:617225
Intellectual Developmental Disorder, X-Linked 109
Poor coordination, Aggressive behavior, Hyperactivity, Stereotypical body rocking, Recurrent hand... OMIM:309548
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Dysmetria, Tremor, Ataxia, Seizure, Tongue fasciculations OMIM:618170
Spinocerebellar Ataxia 23
Babinski sign, Dysmetria, Tremor, Impaired vibration sensation in the lower limbs, Limb ataxia, G... OMIM:610245
Paroxysmal Kinesigenic Dyskinesia
Athetosis, Dystonia, Involuntary movements, Writer's cramp, Chorea, Seizure, Focal sensory seizure ORPHA:98809
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Clumsiness, Bilateral tonic-clonic seizure, Frequent falls, Focal impaired awareness seizure, Spa... ORPHA:1947
Diaminopentanuria
Seizure, Ataxia, Spasticity OMIM:222350
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Failure to thrive, Seizure, Irritability, Stereotypical hand wringing, Spasticity ORPHA:500545
Behr Syndrome
Progressive spasticity, Babinski sign, Gait disturbance, Dysmetria, Tremor, Ataxia OMIM:210000
Angelman Syndrome
Happy demeanor, Bilateral tonic-clonic seizure, Infantile spasms, Self-injurious behavior, Obesit... ORPHA:72
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Sm... ORPHA:289266
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ataxia OMIM:213200
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Fraxe Intellectual Disability
Clumsiness, Aggressive behavior, Stereotypical body rocking, Hyperactivity, Recurrent hand flapping ORPHA:100973
Spinocerebellar Ataxia Type 35
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... ORPHA:276193
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Paroxysmal dystonia, Bilateral tonic-clonic seizure, Nocturnal seizures, S... ORPHA:98784
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... OMIM:260300
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cere... ORPHA:284332
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor, Ataxia, Seizure, Po... ORPHA:79263
Intellectual Developmental Disorder, Autosomal Recessive 57
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Inability to walk, Hypert... OMIM:617188
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Hypoplasia of the thymus, Decreased prop... OMIM:617241
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Failure to thrive in infancy, Febrile seizure (within the age range of 3 months... OMIM:614104
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia, Irritability OMIM:612126
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Steppage gait, Distal sensory impairment, Ataxia, Tremor, Gait ataxia OMIM:618387
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Athetosis, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Failure to th... ORPHA:79351
Spinocerebellar Ataxia 17
Dystonia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Myoclonus, Bradykinesia, Positive Rom... OMIM:607136
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Abnormality of extrapyramidal motor function, Seizure, Ataxia, Abnormal pyramidal sign,... OMIM:618224
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Myoclonus, Tremor, Progressive cerebellar ataxia, Seizure, Abnormal pyramidal sign ORPHA:139485
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait, Abnorm... OMIM:616948
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Febrile seizure (within the age range of 3 months to 6 years), Seizure, Irritability,... ORPHA:206443
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Dystonia, Spastic dysarthria, Stereotypy, Seizure, Waddling gait, Difficulty walki... ORPHA:280763
Hyperprolinemia Type 2
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Early onset a... ORPHA:79101
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, Dystonia, Febrile seizure (within the age range of 3 months to 6 year... ORPHA:1934
Benign Familial Neonatal Epilepsy
Increased theta frequency activity in EEG, Clonus, Limb myoclonus, Focal clonic seizure, Focal to... ORPHA:1949
Spinocerebellar Ataxia Type 27
Gait disturbance, Hand tremor, Aggressive behavior, Tremor, Truncal ataxia, Akinesia, Limb ataxia... ORPHA:98764
Cdkl5-Deficiency Disorder
Gait disturbance, Infantile spasms, Impaired pain sensation, Stereotypical hand wringing, Focal-o... ORPHA:505652
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... ORPHA:423275
Kufor-Rakeb Syndrome
Babinski sign, Gait disturbance, Dystonia, Rigidity, Torticollis, Aggressive behavior, Myoclonus,... OMIM:606693
Spinocerebellar Ataxia Type 32
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Seizure, Irritability, Hyperkinetic... OMIM:233910
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ataxia, Fasciculat... ORPHA:397946
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysmetria, Tremor, Ataxia, Inability to walk, Dysdiadochokinesis, Seizure, Abnormal pyramidal sig... OMIM:614831
Spinocerebellar Ataxia 32
Testicular atrophy, Ataxia, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia 35
Babinski sign, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordination, Difficulty walking OMIM:613908
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Urocanase Deficiency
Tremor, Ataxia, Aggressive behavior OMIM:276880
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonic spasms, Poor motor coordination, Bilateral tonic-clonic seizure, Stereotypy... ORPHA:79264
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Intention tremor OMIM:302500
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Ataxia, Myoclonus, Abnormal nervous system electrophysiology OMIM:204500
Intellectual Developmental Disorder, Autosomal Recessive 38
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Self-mutilati... OMIM:615516
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Seizure, Limb ataxia, Gait ataxia ORPHA:404499
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... ORPHA:101150
Xq28 (MECP2) duplication
Progressive spasticity, Failure to thrive, Stereotypy, Seizure, Inability to walk, Anxiety, Gait ... DECIPHER:45
Kohlschutter-Tonz Syndrome-Like
Upper limb spasticity, Overweight, Nocturnal seizures, Myoclonus, Lower limb spasticity, Stereoty... OMIM:619229
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... ORPHA:240103
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... OMIM:616053
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb hypertonia, Bilateral tonic-clonic seizure, Infantile spasms, Self-injurious behavior, Stere... ORPHA:457351
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Dystonia, Inability to walk, Irritability, Bilateral tonic-clonic seizure ORPHA:457205
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Babinski sign, Dysmetria, Failure to thrive, Aggressive behavior, Myoclonus, Intention tremor, Se... OMIM:618356
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Leukodystrophy, Hypomyelinating, 6
Dystonia, Rigidity, Choreoathetosis, Tremor, Ataxia, Seizure, Spasticity OMIM:612438
Hereditary Continuous Muscle Fiber Activity
Seizure, Ataxia, Spastic gait, Slurred speech ORPHA:972
Spinocerebellar Ataxia Type 28
Babinski sign, Dystonia, Kinetic tremor, Rigidity, Spasticity, Head tremor, Parkinsonism, Limb at... ORPHA:101109
Intellectual Developmental Disorder, X-Linked 1
Seizure, Aggressive behavior, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Attention deficit hyperactivity disorder, Happy demeanor, Typical absence seizure ORPHA:576283
Dystonia 27
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor OMIM:616411
Tay-Sachs Disease
Clumsiness, Progressive spasticity, Gait disturbance, Dystonia, Typical absence seizure, Frequent... ORPHA:845
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive extrapyramidal movement disorder, Bilateral tonic-clonic seizure, Loss of ambulation,... ORPHA:329308
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Fasciculations, Tremor, Inability to walk, Tongue fasciculations, Impaired dist... ORPHA:276435
Mitochondrial Complex I Deficiency, Nuclear Type 17
Dystonia, Gait disturbance, Rigidity, Seizure, Ataxia OMIM:618239
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Myoclonus, Intention tremor, Generalized-onset seizure, Action tremor, Gait ataxia OMIM:254900
Christianson Syndrome
Dystonia, Cachexia, Conspicuously happy disposition, Stereotypy, Generalized-onset seizure, Trunc... ORPHA:85278
Neuroectodermal Melanolysosomal Disease
Rigidity, Tremor, Ataxia, Hypertonia, Seizure, Spasticity ORPHA:33445
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Rigidity, Bradykinesia, Decreased amplitude of sensory... OMIM:619279
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Seizure, Parkinsonism, Spastic par... ORPHA:329284
Developmental And Epileptic Encephalopathy 4
Bilateral tonic-clonic seizure, Spastic tetraplegia, Tremor, Status epilepticus, Spastic parapleg... OMIM:612164
Progressive Multifocal Leukoencephalopathy
Weakness due to upper motor neuron dysfunction, Paresthesia, Abnormal proportion of CD4-positive ... ORPHA:217260
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Neuronal Intranuclear Inclusion Disease
Gait disturbance, Rigidity, Tremor, Ataxia, Seizure, Somatic sensory dysfunction OMIM:603472
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism OMIM:614203
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Babinski sign, Lower limb spasticity, Cardiomyopathy, Difficulty walking, Abnormal pyramidal sign... ORPHA:320360
Lopes-Maciel-Rodan Syndrome
Dystonia, Bradykinesia, Tremor, Seizure, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, Abn... OMIM:617435
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Stereotypy OMIM:615541
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly,... ORPHA:169154
Gerstmann-Straussler Disease