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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), Bilateral tonic-clonic seizure, At... 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, 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 myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
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
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
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
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Generalized no... ORPHA:98811
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure OMIM:618596
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Epilepsy, Familial Temporal Lobe, 4
Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features OMIM:611631
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... ORPHA:307
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, Bilate... ORPHA:98818
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Poor coordination, Focal motor seizure, Generalized non-motor (absence)... OMIM:617665
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:614018
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s... OMIM:617113
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Continuous Spikes And Waves During Sleep
Interictal epileptiform activity, EEG with frontal focal spike waves, EEG with centrotemporal foc... ORPHA:725
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... OMIM:616421
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai... OMIM:615744
Dravet Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:617709
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Incoordination, Tremor, Focal-... ORPHA:36387
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, EEG with sp... ORPHA:139431
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Aggressive behavior, Typical abs... OMIM:616409
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure, Typical absence seizure, Morning myoclonic jerks, Generalized non... OMIM:607682
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure OMIM:617771
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Developmental And Epileptic Encephalopathy 24
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... OMIM:616346
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Seizure, Truncal ataxia, Abn... OMIM:608636
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Myoclonic seizure, Depression, Seizure, Abn... OMIM:162350
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor ... OMIM:254800
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Falls, M... ORPHA:2382
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener... OMIM:619157
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... OMIM:601068
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:615006
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Difficulty walking, Att... OMIM:619191
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... OMIM:620145
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Seizure, Ataxia, Hemiplegia/hemiparesis ORPHA:1182
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Dystonia 31
Generalized dystonia, Parkinsonism, Writer's cramp, Leg dystonia, Depression, Arm dystonia, Diffi... OMIM:619565
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Lower limb spasticity, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, At... OMIM:619639
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Agg... ORPHA:86909
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, Generalized myo... OMIM:617836
Episodic Ataxia, Type 5
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Involuntary movements, Aggressive behavior, Status epilepticus, A... OMIM:617171
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Limb ataxia, S... OMIM:617350
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Self-injuriou... ORPHA:382
Spinocerebellar Ataxia 48
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Cachexia, Tremor, Chorea, Babinsk... OMIM:618093
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur... OMIM:617810
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ... OMIM:615362
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Gait disturbance, Abnormality of extrapyramidal... OMIM:614561
Developmental And Epileptic Encephalopathy 59
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Self-... OMIM:617904
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Rigidity... OMIM:618090
Stxbp1-Related Encephalopathy
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Myoclonic Epilepsy, Familial Infantile
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G... OMIM:605021
Epilepsy, Progressive Myoclonic 7
Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia OMIM:213000
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu... ORPHA:2590
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Depression, Abnormality of extrapyra... OMIM:204300
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor... OMIM:271980
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Ataxia, Aggressive behavior, Focal motor status epilepticus, Focal-onset seizure, Chore... OMIM:619150
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure ORPHA:79137
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Generalized-onset seizure, Inability to walk, Babinski sign, Spastic tetraplegia, ... OMIM:616657
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG... OMIM:613608
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, Dysphagia, Recurrent ... OMIM:617862
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Seizure, Truncal ataxia, Decreased body weight, Abnormal repetit... OMIM:614063
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressiv... ORPHA:485350
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... OMIM:615127
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia, Autosomal Recessive 12
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Limb ataxia, Gait a... OMIM:614322
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy... ORPHA:401901
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Generalized non-motor (absence) seizure, Difficulty walking, Spasticity OMIM:618242
Symmetrical Thalamic Calcifications
Ataxia, Spasticity, EEG abnormality, Seizure, Hypertonia, Arrhythmia, Failure to thrive ORPHA:1314
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbance, Falls, Myoclonus,... OMIM:616230
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... OMIM:611726
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Paroxysmal... OMIM:602066
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst... OMIM:104290
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... OMIM:618924
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Chorea, Clonic seizure, Focal-o... OMIM:618917
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Restlessness, Bilateral tonic-clonic seizure, Clumsiness, Irritability, Focal impaired awareness ... OMIM:610003
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... OMIM:616540
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired t... OMIM:300423
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome
Waddling gait, Broad-based gait, Involuntary movements, Aggressive behavior, Unsteady gait, Gait ... ORPHA:468620
Yoon-Bellen Neurodevelopmental Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I... OMIM:619701
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Dysesthesia, Fo... ORPHA:1945
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Developmental And Epileptic Encephalopathy 42
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz... ORPHA:100988
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Huntington Disease-Like 1
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax... ORPHA:157941
Mitochondrial Complex I Deficiency, Nuclear Type 12
Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizure, Gait imbalance, ... OMIM:301020
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... OMIM:619970
Epilepsy, Nocturnal Frontal Lobe, 2
Depression, Status epilepticus, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:603204
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Inability to walk... ORPHA:330050
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Migraine, Familial Hemiplegic, 1
Ataxia, Tremor, Hemiparesis, Seizure, Agitation, Hemiplegia OMIM:141500
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Dystonia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoc... OMIM:618497
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Developmental And Epileptic Encephalopathy 60
Epileptic spasm, Tonic seizure, Inability to walk, EEG with burst suppression, Spastic tetraplegi... OMIM:617929
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Speech apraxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:245570
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Tremor, Inability to walk, Seizure, Stereotypical hand wringing OMIM:619561
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure OMIM:613886
Developmental And Epileptic Encephalopathy 103
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic stat... OMIM:619913
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... ORPHA:53583
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Myoclonic absence seizure OMIM:612621
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Hydroxylysinuria
Generalized myoclonic seizure OMIM:236900
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... OMIM:616981
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Bilateral tonic-clonic seizure, Failure to thrive in infancy, Babinski sign, Spastic dipl... OMIM:619065
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Irritability, Status epilepticus, Myoclonus, Fai... OMIM:609056
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:35878
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas... ORPHA:216873
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia OMIM:617018
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Rigid... OMIM:612736
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Gait dist... ORPHA:544254
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... OMIM:617711
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Seizure, Spasticity OMIM:620317
Myoclonic-Astatic Epilepsy
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Si... ORPHA:1942
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Bilateral tonic-clonic seizure, Slender build, Chorea, Generalized... OMIM:617600
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Benign Occipital Epilepsy
Focal impaired awareness seizure ORPHA:25968
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Focal-onset seizure, Hand tremor, EEG abnormality, Myoclonus ORPHA:86814
Infantile Convulsions And Choreoathetosis
Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Athetosis, Seizure, Complex ... ORPHA:31709
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dysto... OMIM:614860
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Infantile spasms, Tonic seizure, Focal-onset seizure, Seizure, Irritability, Difficulty walking, ... OMIM:617393
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Chorea, Nocturnal seizures,... OMIM:619725
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Chorea, Focal-onset seizure, Self-injurious behavior, Convulsive status epilep... OMIM:618760
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Atonic seizure, Ora... ORPHA:208447
Rapid-Onset Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure, Dep... ORPHA:71517
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Inability to walk, Foc... OMIM:616645
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor... OMIM:618170
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Bilateral Frontoparietal Polymicrogyria
Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Abnormal pyramida... ORPHA:101070
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Seizure, Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Carnosinemia
Generalized myoclonic seizure OMIM:212200
Developmental And Epileptic Encephalopathy 58
Inability to walk, Spastic diplegia, Seizure, Status epilepticus, Abnormal repetitive mannerisms OMIM:617830
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus OMIM:208700
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Large for gestational age, Seizure, Bruxism, Spasticity ORPHA:356996
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Intellectual Developmental Disorder, Autosomal Dominant 46
Seizure, Focal impaired awareness seizure, Infantile spasms, Tonic seizure OMIM:617601
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mann... OMIM:239500
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gai... ORPHA:93952
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired vibration sensat... ORPHA:251282
Spastic Paraparesis And Deafness
Tremor, Hypogonadism, Hearing impairment, Spastic paraparesis OMIM:312910
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Failure to thrive OMIM:269840
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... ORPHA:208441
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia OMIM:203740
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... ORPHA:363710
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Foxg1 Syndrome
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset seizur... ORPHA:561854
Neurodevelopmental Disorder With Involuntary Movements
Dystonia, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Self-i... OMIM:617493
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Inabi... ORPHA:168491
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Severe Canavan Disease
Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia, Inability to walk, Babinski sign, Seiz... ORPHA:314911
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, ... OMIM:614487
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... OMIM:616139
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Impulsivity... OMIM:619028
Polymyoclonus, Infantile
Irritability, Ataxia, Myoclonus OMIM:263550
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity... OMIM:619911
Lissencephaly 3
Ataxia, Bilateral tonic-clonic seizure, Spastic tetraplegia, Seizure, Generalized tonic seizure OMIM:611603
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Dystonia, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical abse... ORPHA:225147
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:615476
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... OMIM:213600
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Weight loss, Seizure, Tip-toe ... ORPHA:216866
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ... OMIM:619854
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... ORPHA:101108
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Inability to walk, Self-injurious behavior, Seizure, Dystonia, Spasticity,... OMIM:617820
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Bradykinesia, Seizure, Ankle c... OMIM:617435
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Atonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Foc... ORPHA:411986
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... OMIM:607317
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Choreoathetosis, Seizure, Irritability, Hypertonia, Myoclonus, Dysphagia OMIM:261630
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Ataxia, Tonic seizure, Rigidity, Repetitive compulsive... OMIM:300260
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystoni... OMIM:615924
Hartnup Disorder
Hyperactivity, Seizure, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Em... OMIM:234500
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia ORPHA:217012
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Seizure, Ataxia, Apraxia ORPHA:85338
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Seizure, Abno... OMIM:619470
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Inabi... OMIM:617976
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se... OMIM:617389
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener... OMIM:619616
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... OMIM:608105
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior, Seizure, Bruxism, Spasticity OMIM:615493
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Dystonia 12
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dysphagia, ... OMIM:128235
Lafora Disease
Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generali... ORPHA:501
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Epileptic spasm, EEG with burst suppression, Focal-onset seizure, M... ORPHA:3006
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... ORPHA:248111
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Generalized myoclonic seizure ORPHA:79156
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, Focal clonic seizure, Episodic ata... ORPHA:140927
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Alpers-Huttenlocher Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... ORPHA:726
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic s... OMIM:619428
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Sandhoff Disease, Adult Form
Dystonia, Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dysphagia, Spasticity ORPHA:309169
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m... ORPHA:263516
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors OMIM:159900
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A... ORPHA:3077
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Small for gestational age, Infantile spasms, Tremor, Spasticity OMIM:278780
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Infantile Cerebellar-Retinal Degeneration
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Athetosis, Decreased body weight, Fa... OMIM:614559
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, Spastic dysarthr... ORPHA:313772
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Focal tonic se... OMIM:617105
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Writer's cramp, Chorea, Athetosis, Seizure, Dystonia, Focal sensory seizure ORPHA:98809
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Hyperactivity, Repeated focal motor seizures, Bilateral tonic-cloni... ORPHA:1929
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... ORPHA:314632
Developmental And Epileptic Encephalopathy 47
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Focal-onset seizure, Li... OMIM:617166
Atypical Rett Syndrome
Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Seizure, Gait di... ORPHA:3095
Spinocerebellar Ataxia Type 10
Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Aggressive behavior, Unsteady g... ORPHA:98761
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Tubulinopathy-Associated Dysgyria
Startle-induced seizure, Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Atten... ORPHA:467166
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Seizure, Status epilepticus, Dystoni... OMIM:614820
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... OMIM:617270
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Seizure, Failure to thrive, Ataxia OMIM:618951
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomoto... OMIM:612716
Intellectual Developmental Disorder, Autosomal Recessive 47
Focal impaired awareness seizure OMIM:616193
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seizure, ... OMIM:620166
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Emotional ... OMIM:616269
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Obes... ORPHA:464282
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Somatic sensory dysfunction, Bilateral tonic-clonic seizure, Aggressive behavior,... ORPHA:199354
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa... OMIM:616281
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia OMIM:611031
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus, Dystonia OMIM:125370
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Kohlschutter-Tonz Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Seizure, Spasticity OMIM:226750
Sarcosinemia
Emotional lability, Ataxia, Tetraparesis, Bilateral tonic-clonic seizure ORPHA:3129
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function, Hearing i... OMIM:165300
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Sei... OMIM:261640
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Seizure, Myoclonus, Difficulty walking, Dystonia, Lethargy, Spasticity OMIM:617829
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia OMIM:620270
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... OMIM:604317
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Spasticity OMIM:613722
Cln5 Disease
Hyperactivity, Generalized-onset seizure, Ataxia, Abnormal central motor function, Aggressive beh... ORPHA:228360
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Dystonia, Oculogyric crisis, Inability to walk, Chorea, Myoclonic seizure, Self-... OMIM:614254
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... OMIM:607745
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... OMIM:600363
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Seizure, Hemi... OMIM:606777
Huntington Disease
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Clums... ORPHA:399
Spinocerebellar Ataxia 17
Broad-based gait, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Dysmetri... OMIM:607136
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral tonic-clonic seizure, Si... ORPHA:352582
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Seizure, Spasticity OMIM:300983
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... OMIM:616341
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Tonic ... OMIM:619580
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... OMIM:604326
Liang-Wang Syndrome
Dystonia, Ataxia, Generalized non-motor (absence) seizure, Status epilepticus OMIM:618729
Epilepsy, Progressive Myoclonic, 11
Ataxia, Rigidity, Seizure, Myoclonus, Intention tremor OMIM:618876
Huntington Disease-Like 1
Restlessness, Incoordination, Aggressive behavior, Rigidity, Chorea, Unsteady gait, Dysmetria, De... OMIM:603218
2,4-Dienoyl-Coa Reductase Deficiency
Incoordination, Ataxia, Clonus, Tetraplegia, Choreoathetosis, Seizure, Dystonia, Spasticity, Fail... OMIM:616034
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Tremor, Overweight, Depression, Seizure, Hyperkinetic movements, ... ORPHA:457240
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Harel-Yoon Syndrome
Ataxia, Inability to walk, Generalized non-motor (absence) seizure, Dystonia, Spasticity OMIM:617183
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Limb ataxia, Impaired tandem gait, Dysmetria, Gait ataxia, ... OMIM:117360
Autism
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem... ORPHA:454887
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Chorea, Generalized non-motor (absence) seizure, Bruxism, Focal impaired awar... OMIM:620149
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non... OMIM:300558
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... OMIM:128230
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure, Spastic paraplegia, Dysmetria, Gait ataxia, Spastic gait OMIM:615031
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Pa... ORPHA:98820
Hyperprolinemia Type 2
Early onset absence seizures, Generalized-onset seizure, Aggressive behavior, Dysesthesia, Unstea... ORPHA:79101
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Myocl... OMIM:619092
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor,... OMIM:302500
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Parkinsonism, Seizure, Abnormality of extrapyramidal motor functi... OMIM:204200
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Hyperactivity, Failure to thrive, Ataxia, Bilateral tonic-clonic seizure, ... OMIM:300912
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... OMIM:612164
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... OMIM:615637
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Poor coordination, Limb ataxia, Self-injurious behav... OMIM:617695
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Focal-onset seizure, Depression, Hemiparesis, Seizure, Status epilepticus, Spasti... OMIM:614307
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... OMIM:619279
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Hypoglycemia, Leucine-Induced
Seizure, Spasticity, Ataxia, Irritability OMIM:240800
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysm... ORPHA:284324
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... ORPHA:98795
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... OMIM:617241
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Depression, Gait di... ORPHA:98764
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition... OMIM:600795
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus OMIM:266100
Benign Familial Neonatal Epilepsy
Focal EEG discharges with secondary generalization, Simple febrile seizure, Clonus, Focal-onset s... ORPHA:1949
Cdkl5-Deficiency Disorder
Infantile spasms, Impaired pain sensation, Focal-onset seizure, Gait disturbance, Inappropriate l... ORPHA:505652
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Cln3 Disease
Extrapyramidal muscular rigidity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Fo... ORPHA:228346
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... OMIM:607876
Congenital Disorder Of Glycosylation, Type Iaa
Appendicular spasticity, Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Status epileptic... OMIM:617082
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Tremor, Rigidity, Choreoathetosis, Seizure, Irritability, Hyperkinetic movements, Dysph... OMIM:233910
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Seizure, Pill-rolling tremor, Shuf... OMIM:615528
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres... ORPHA:101109
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Seizure, Bruxism, Spasticity, ... OMIM:618718
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Parkinson Disease 22, Autosomal Dominant
Restless legs, Resting tremor, Rigidity, Depression, Bradykinesia, Gait disturbance, Parkinsonism... OMIM:616710
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Difficulty walking, Febrile... ORPHA:477673
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized n... ORPHA:395
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Diff... ORPHA:529665
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Infantile Neuronal Ceroid Lipofuscinosis
Generalized-onset seizure, Ataxia, Dystonia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness... ORPHA:79263
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive OMIM:619651
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, Seizure, Irritability, Dystonia OMIM:612126
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Depression, Prog... ORPHA:254881
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... OMIM:618218
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Depression, Seizure, Progressive spasticity, Dysphagia, Failure t... DECIPHER:45
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Hearing impairment OMIM:614369
Late-Infantile/Juvenile Krabbe Disease
Tremor, Neuromuscular dysphagia, Loss of ambulation, Ataxia, Clumsiness, Impaired tactile sensati... ORPHA:206443
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weig... OMIM:137440
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski... OMIM:617225
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Seizure, Positive Romberg sign, Dysp... OMIM:618088
Intellectual Developmental Disorder, Autosomal Recessive 57
Generalized-onset seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febrile s... OMIM:617188
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... ORPHA:268947
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetraparesis, Inability ... OMIM:618012
Raynaud-Claes Syndrome
Lower limb spasticity, Aggressive behavior, Depression, Progressive cerebellar ataxia, Seizure, F... OMIM:300114
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... OMIM:612016
Dystonia 16
Limb dystonia, Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnorm... OMIM:612067
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, Myoclonus, Loss of ambul... OMIM:256731
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait disturbance, Dystonia... ORPHA:542310
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Chorea, Seizure, Focal impaired awareness seizure, Status epilept... OMIM:613970
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational age, Focal-onset seizure, ... ORPHA:289266
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... OMIM:300055
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Bilateral tonic-clonic seizure, Gait imbalance, Gait ataxia ORPHA:488635
Den Hoed-De Boer-Voisin Syndrome
Tremor, Abnormal repetitive mannerisms, Ataxia, Overweight, Obesity, Nocturnal seizures, Stereoty... OMIM:619229
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Hemi... ORPHA:101071
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... OMIM:609425
Dystonia 16
Limb dystonia, Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign... ORPHA:210571
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl... OMIM:619301
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Head titubation, Dysmetria, Seizure, Irritability, Myoclonus, Truncal ataxia, L... OMIM:250620
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreo... ORPHA:13
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Tremor, Myoclonus, Difficulty walking, Dysphagia, Generalized myocloni... OMIM:159950
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... ORPHA:64280
Tay-Sachs Disease
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Typical abse... ORPHA:845
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my... OMIM:613839
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Overweight, Babinski sign, Spastic dysarthria, Seizure, Difficulty walking, Dyston... ORPHA:280763
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression... OMIM:616795
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Head titubation, Gait ataxia, Focal impaired awareness seizure, Truncal ataxia,... OMIM:620208
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:618067
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Gait ataxia, Dysphagia, Progressive cerebellar ataxia, Cogwheel rig... OMIM:607346
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... OMIM:606693
Periventricular Nodular Heterotopia 7
Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Seizure, Failure to thrive OMIM:617201
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Clonic seizure, Spastic tetraplegia, Self-injurious behavior, Seizure, Hypertonia, Abnormal repet... OMIM:615282
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Seizure, Dysd... OMIM:614831
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Generalized myoclonic seizure, Atonic seizure, Aggressiv... ORPHA:72
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Spastic... ORPHA:79351
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus, Dystonia ORPHA:139406
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, ... OMIM:607483
Juvenile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Clumsiness, Poor fine moto... ORPHA:79264
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Ataxia, Small for gestational age, Failure to thrive in infancy, S... OMIM:614104
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Torticollis, Hypergonadotropic hypogonadism, Hearing i... OMIM:613724
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Involuntary movements, Inability to walk, Myoclonic seizure, Seiz... OMIM:615716
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T ce... ORPHA:169154
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Seizure, Syncope, Gait distu... OMIM:603472
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... ORPHA:423275
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Irritability, Bilateral tonic-clonic seizure, Dystonia ORPHA:457205
Fatty Acid Hydroxylase-Associated Neurodegeneration
Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic pa... ORPHA:329308
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Seizure, Myoclonus, Dystonia ORPHA:139485
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... ORPHA:254343
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure, Spastic tetraplegia, Irritability, Dystonia, Failure to thrive OMIM:618237
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Rigidity, Tremor, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Parkinsonis... ORPHA:240085
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl... OMIM:619302
Sulfite Oxidase Deficiency, Isolated
Generalized dystonia, Ataxia, Bilateral tonic-clonic seizure, Choreoathetosis, Hypertonia, Agitat... OMIM:272300
Developmental And Epileptic Encephalopathy 107
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure OMIM:620033
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Dysphagia, Spast... ORPHA:391417
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Progressive Multifocal Leukoencephalopathy
Somatic sensory dysfunction, Weakness due to upper motor neuron dysfunction, Parkinsonism, Hemipl... ORPHA:217260
Cataract-Ataxia-Deafness Syndrome
Ataxia, Tremor, Decreased nerve conduction velocity, Sensorineural hearing impairment, Hypertonia... ORPHA:1368
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... ORPHA:240103
Mitochondrial Myopathy With Lactic Acidosis
Dysmetria, Seizure, Tip-toe gait, Focal impaired awareness seizure, Dystonia, Spasticity OMIM:251950
Lichtenstein-Knorr Syndrome
Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor OMIM:616291
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Parkinsonism-Dystonia 3, Childhood-Onset
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depression, Hypertonia, Hype... OMIM:619738
Monomelic Amyotrophy
Tremor, Fasciculations, Abnormality of peripheral nerve conduction ORPHA:65684
Leber Hereditary Optic Neuropathy
Postural tremor, Ataxia, Retinal telangiectasia, Ventricular preexcitation, Arrhythmia ORPHA:104
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... OMIM:606159
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Hypertonia... OMIM:619877
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Gait ... OMIM:615157
Developmental And Epileptic Encephalopathy 46
Generalized-onset seizure, Tremor, Hypsarrhythmia, Seizure, Failure to thrive, Limb hypertonia OMIM:617162
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... ORPHA:457351
Early Infantile Epileptic Encephalopathy
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Trem... ORPHA:1934
Spinocerebellar Ataxia, Autosomal Recessive 32
Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... OMIM:619862
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Dysphagia, Loss of ambulation OMIM:617916
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior OMIM:309530
Developmental And Epileptic Encephalopathy 61
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal clonic seizure, Loss of ambulatio... OMIM:617933
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
X-Linked Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dyst... ORPHA:53351
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait OMIM:618387
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Irritability, H... OMIM:617290
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,... OMIM:602481
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Depression, Irritability, Dystonia, Action tremor OMIM:606438
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Bradykinesia, Ankle cl... ORPHA:521406
Lissencephaly Due To Lis1 Mutation
EEG with changes in voltage, Infantile spasms, Focal motor seizure, Tetraplegia, Hypsarrhythmia, ... ORPHA:95232
Nathalie Syndrome
Arrhythmia ORPHA:2663
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Seizure, Hypertonia, Spasticity ORPHA:33445
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... OMIM:617145
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, Seizure, Myoclonus, Fe... OMIM:616973
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Head titubation, Inability to walk, Tremor, Rigidity, Gait ataxia, Choreo... OMIM:618877
Christianson Syndrome
Generalized-onset seizure, Dystonia, Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Tr... ORPHA:85278
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Generalized-onset seizure, Slurred speech, Limb ataxia, Dysmetria, Ankle clonus, Progressive cere... ORPHA:284289
Spinocerebellar Ataxia 10
Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Distal sensory ... OMIM:603516
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... ORPHA:101112
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Seizure, Hypertonia, Attention deficit hyperactivity disorder,... OMIM:619556
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... ORPHA:442835
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Head titubation, Inabil... OMIM:312080
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... OMIM:615859
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity OMIM:213200
Dk1-Cdg
Bilateral tonic-clonic seizure, Infantile spasms, Congestive heart failure, Focal-onset seizure, ... ORPHA:91131
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, Inability to walk, Unsteady gait, Spastic tetraplegia, Gait ataxia, Clumsiness, Seizure, ... ORPHA:1947
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Speech apraxia, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Impaired vibration sensati... ORPHA:137898
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... ORPHA:45452
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Thrombocytopenia, Babinski sign, Unsteady gait, Impaired vibration sensatio... OMIM:159550
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors OMIM:619405
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Clonus, Babinski sign, Dysmetria, Hypochromic microcytic anemia, Dysdiadoch... OMIM:301310
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... ORPHA:101077
Leukodystrophy, Hypomyelinating, 2
Dystonia, Ataxia, Head titubation, Rigidity, Babinski sign, Choreoathetosis, Seizure, Focal impai... OMIM:608804
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairm... ORPHA:320401
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Arrhythmia, Gait disturbance ORPHA:99944
Spinocerebellar Ataxia Type 36
Ataxia, Babinski sign, Dysmetria, Dysphagia, Limb ataxia, Hand tremor, Tongue fasciculations, Att... ORPHA:276198
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Mitochondrial Complex I Deficiency, Nuclear Type 13
Generalized dystonia, Bilateral tonic-clonic seizure, Focal motor seizure, Irritability, Spastici... OMIM:618235
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... OMIM:610185
3P25.3 Microdeletion Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Attention defici... ORPHA:435638
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:618354
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Ataxia, Tremor, Bruxism, Choreoathetosis, Seizure, Dysphagia, Self-mutilation OMIM:619422
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Seizure, Dysphagia, Loss of ... OMIM:607694
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Clonus, Incoordina... ORPHA:480864
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia ORPHA:306669
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with... ORPHA:163681
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... OMIM:609270
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... OMIM:620292
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ataxia, Bilateral tonic-clonic seizure, Large for gestational age, Babinski sign, Generalized non... OMIM:615398
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Dysphagia OMIM:618637
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... OMIM:300623
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Speech apraxia, Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavi... OMIM:613670
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab... OMIM:183090
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Dysphagia, Dystonia, Abnormal posturing OMIM:304700
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... ORPHA:240094
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
4H Leukodystrophy
Dystonia, Ataxia, Tremor, Dysmetria, Seizure, Dysdiadochokinesis, Progressive gait ataxia, Abnorm... ORPHA:289494
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Involuntary move... ORPHA:98784
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Steppage gait, Hypertonia, Spas... OMIM:609260
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Congestive heart failure, Chorea, Dilated cardiomyopathy, ... OMIM:606703
Recessive Mitochondrial Ataxia Syndrome
Impaired vibratory sensation, Ataxia, Dysmetria, Seizure, Gait disturbance, Positive Romberg sign... ORPHA:94125
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Behr Syndrome
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Gait disturbance, Progressive... OMIM:210000
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Generalized-onset seizure ORPHA:459074
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Lower limb spasticity, Hyperactivity, Generalized non-motor (absence) seizure, Tics, Inappropriat... ORPHA:363686
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Spinocerebellar Ataxia Type 13
Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Titubation, Seizure, ... ORPHA:98768
Ravine Syndrome
Spasticity, Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, Spasticity, Bilateral tonic-clonic seizure, Involuntary movements ORPHA:209370
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Paraplegia, Emotional lability, Seizure, Agitation, Lethargy, Failure to thrive, Abnormal... ORPHA:927
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Truncal obesity, Arrhythmia, Gait disturbance ORPHA:2928
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Seizure, Arrhythmia, Hypertrophic cardiomyopath... OMIM:616198
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal-onset seizure, Babinski sign, Ankle clonus, Focal impaired ... OMIM:301058
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Involuntary movements, Unsteady gait, Generalized non-motor (abse... OMIM:617798
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Distal sensory impairment, Hand tr... OMIM:302800
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Ankle clon... ORPHA:363654
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Sensorineural hearin... ORPHA:52368
Nicolaides-Baraitser Syndrome
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:3051
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula... ORPHA:90117
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Typical absence seizure, Attention deficit hyperactivity disorder, Dysphagia ORPHA:576283
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... OMIM:616719
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Depression, Inappropriate be... OMIM:168605
Manganese Poisoning
Dystonia, Postural tremor, Akinesia, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Brad... ORPHA:306682
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Generalized non-motor (absence) seizure OMIM:300801
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Tremor, Depression, Seizure, Truncal obesit... OMIM:300957
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, Seizure, Gait disturbance, Agitation, Difficulty w... ORPHA:778
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Hypsarrhythmia, Poor fine motor coordination, Seizure, Sick sinus synd... ORPHA:542306
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospa... OMIM:617282
Hijazi-Reis Syndrome
Lower limb spasticity, Ankle clonus, Seizure, Gait disturbance, Abnormal repetitive mannerisms OMIM:301094
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Spontaneous Periodic Hypothermia
Tremor, Seizure, Ataxia, Gait disturbance ORPHA:29822
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Sei... ORPHA:363400
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity diso... OMIM:301029
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Febrile seizure (within the age range... OMIM:615516
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w... OMIM:617988
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Inability to walk, Seizure, Focal impaired awareness seizure, Fai... ORPHA:488613
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia, Seizure ORPHA:3124
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, Seizure, Irritabi... ORPHA:481152
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Aggressive behavior, Tremor, Seizure, Myoclonus, Dysphagia ORPHA:97229
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Seizure, Spastic par... ORPHA:329284
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:617507
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Hemiparesis, Self-injurious behavior, S... OMIM:618004
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Generalized-onset seizure, Gait ataxia, Difficulty walking, Dystonia, Spasticit... OMIM:617807
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Pain insensitivity, Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Inability to w... OMIM:620224
Brain Small Vessel Disease 2
Hemiplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraplegia OMIM:614483
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor (absence) seizure, Hypertoni... OMIM:615802
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Seizure, S... OMIM:300894
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Apnea, Obstructive Sleep
Focal impaired awareness seizure OMIM:107650
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Babinski sign, Abno... ORPHA:97349
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, Choreoathetosis, At... ORPHA:2131
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Choreoacanthocytosis
Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, ... ORPHA:2388
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset, Clumsiness ORPHA:158
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Supraventricular arrhythmia, Unsteady gait, Limb tre... ORPHA:420492
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom... ORPHA:227510
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Truncal titubation, Tremor, Dysmetria, Gait ataxia, Seizure, Hypert... OMIM:618056
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Choreoathetosis, Seizure, Myoclonus, Dystonia, Episodic ataxia... OMIM:312170
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Bilateral tonic-clonic seizure, Chorea, Difficulty walking, Truncal ataxia ORPHA:369840
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance ORPHA:99014
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl... OMIM:614207
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age OMIM:240900
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Chorea, Typ... OMIM:619777
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... OMIM:617013
Aicardi-Goutieres Syndrome 6
Rigidity, Tremor, Irritability, Dystonia, Loss of ambulation OMIM:615010
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Bilateral tonic-clonic seizure, Gait imbalance OMIM:618120
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Small for gestational age, Inability to... ORPHA:79243
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Marchiafava-Bignami Disease
Ataxia, Aggressive behavior, Rigidity, Abnormal pyramidal sign, Gait ataxia, Hemiparesis, Seizure... ORPHA:221074
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Small for gestational age, Aggress... OMIM:617799
Dpm1-Cdg
Early onset absence seizures, Ataxia, Seizure, Generalized myoclonic seizure, Spasticity, Failure... ORPHA:79322
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism OMIM:616351
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Seizure, Polyphag... ORPHA:228402
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign, Titubation, Athet... ORPHA:280219
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Cerebral palsy, Bilateral tonic-clonic seizure with generalized onset, Chorea, Babinski sign, Cho... OMIM:618451
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Dystonia, Parkinsonism, Rigidity, Depression, Bradykinesia, Gait disturbance, Myo... OMIM:168601
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Sei... ORPHA:70594
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired pain sensation, Impaired temperature sensation, Tremor, Impaired distal vibration sensat... OMIM:619574
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Congenital Disorder Of Glycosylation, Type Iiy
Bilateral tonic-clonic seizure, Status epilepticus OMIM:620200
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Abnor... ORPHA:206594
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... OMIM:608768
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Seizure, Gait disturban... ORPHA:765
Neuroferritinopathy
Resting tremor, Dystonia, Parkinsonism, Involuntary movements, Writer's cramp, Chorea, Babinski s... ORPHA:157846
Desminopathy
Sudden cardiac death, Supraventricular arrhythmia, Fatigable weakness of bulbar muscles, Congesti... ORPHA:98909
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized myoclonic seizure, Small for gestational age, Infantile spasms, Atonic seizure, Actio... ORPHA:404454
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Cachexia, Lethargy, Febrile seizure (within the age range... ORPHA:42
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Seizure, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper m... ORPHA:530983
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes, Hypertonia, Focal impaired awarenes... ORPHA:163985
Spinocerebellar Ataxia 32
Azoospermia, Ataxia, Infertility, Testicular atrophy OMIM:613909
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing imp... OMIM:125250
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... ORPHA:98794
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Shuffling gait,... OMIM:311510
Ritscher-Schinzel Syndrome 4
Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Focal-onset seizure, Ch... OMIM:619435
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Seizure, Inappropr... ORPHA:411511
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic paraplegia, Athetosis, Seizure, Focal imp... ORPHA:369929
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At... ORPHA:99027
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculomotor apraxia, Limb a... OMIM:208920
Classic Galactosemia
Speech apraxia, Incoordination, Ataxia, Postural tremor, Clumsiness, Depression, Seizure, Gait di... ORPHA:79239
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap... OMIM:618060
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis,... ORPHA:268940
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Generalized-onset seizure, Loss of ability to walk in early childhood, Small for gestational age,... OMIM:612073
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Multifocal seizures, Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetrapl... OMIM:617710
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Abnormal pyramida... OMIM:614298
Developmental And Epileptic Encephalopathy 106
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Limb hyper... OMIM:620028
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... OMIM:615607
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait, ... OMIM:616505
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im... OMIM:300607
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Dysphoria, Poor coordination, Depression, Poor fine motor coo... OMIM:620242
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Cerebral palsy, Small for gestational age, Repetitive compulsive behavior, Seizure... ORPHA:352490
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Seizure, Hypertonia, Gai... OMIM:300986
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Jervell And Lange-Nielsen Syndrome
Seizure, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Spinocerebellar Ataxia 21
Ataxia, Parkinsonism, Impulsivity, Aggressive behavior, Akinesia, Postural tremor, Limb ataxia, G... OMIM:607454
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li... OMIM:608643
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Obesity, Seizure, Compulsive behav... OMIM:618430
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Disinhibition, Dysphagia, Emotional lability, Spasticity, Abnormal repetitive mann... OMIM:612069
Charcot-Marie-Tooth Disease And Deafness
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment OMIM:118300
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Absent P wave, First degree atrioventricular block, Sudden cardiac death, Atrioven... OMIM:310300
Aminoacylase 1 Deficiency
Seizure, Hyperactivity, Bilateral tonic-clonic seizure OMIM:609924
Rett Syndrome
Dystonia, Cachexia, Gait apraxia, Bruxism, Gait ataxia, Seizure, Truncal ataxia, Spasticity, Ster... OMIM:312750
Ataxia-Telangiectasia
Ataxia, Tremor, Seizure, Gait disturbance, Spasticity, Failure to thrive ORPHA:100
Spinocerebellar Ataxia, Autosomal Recessive 23
Seizure, Arrhythmia, Ataxia OMIM:616949
Lissencephaly 9 With Complex Brainstem Malformation
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Myoclonic seizure, Seizu... OMIM:618325
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Myopathy With Extrapyramidal Signs
Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Seizure, Status epile... OMIM:615673
Unilateral Polymicrogyria
Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S... ORPHA:268943
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Tremor, Increased body weight, Seizure, Lethargy ORPHA:276608
Trisomy X
Tremor, Seizure, Attention deficit hyperactivity disorder, Depression ORPHA:3375
Spinocerebellar Ataxia Type 18
Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor ORPHA:98771
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Decreased nerve conduction velocity, Congestive heart failure, Tetra... ORPHA:85446
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Chorea, Opisthotonus, Status epilepticus, Myoclonus, Tetraparesis... OMIM:616672
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal py... ORPHA:240071
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:618856
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia... OMIM:610217
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Seizure, Syncope, Torsade de pointes, Abnormal T-wave, P... ORPHA:101016
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non... ORPHA:513456
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Tongue thrusting, Spastic tetraplegia, Opisthotonus, Seizure, Foc... OMIM:220120
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Restlessness, Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Irritability, Hypertonia... ORPHA:544503
Combined Oxidative Phosphorylation Deficiency 32
Dystonia, Tremor, Inability to walk, Choreoathetosis, Seizure, Dysphagia, Spasticity OMIM:617664
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
48,Xxyy Syndrome
Ataxia, Tremor, Obesity, Depression, Seizure, Attention deficit hyperactivity disorder, Abnormal ... ORPHA:10
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Hypertonia, Gait disturbance, Photosensitive myoclonic seizure ORPHA:1192
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Seizure, Myo... OMIM:300672
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Bilateral tonic-clonic seizure, Ataxia, Tetraplegia, Spasticity, Fasciculations, Progre... ORPHA:496641
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Dystonia, Seizure, Agitation, Gait disturbance, Bruxism, Recurrent hand flapping OMIM:617903
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Generalized non-motor (absence) seizure, Obesity, Depression, Seizure, Irritabil... ORPHA:96147
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia... OMIM:616881
Rett Syndrome, Congenital Variant
Dystonia, Chorea, Tongue thrusting, Athetosis, Seizure, Irritability, Bruxism, Spasticity, Apraxi... OMIM:613454
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... ORPHA:459056
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Progressive Supranuclear Palsy
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Depression, Bradykinesia, Blepharospasm, ... ORPHA:683
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Sandhoff Disease
Exaggerated startle response, Ataxia, Bilateral tonic-clonic seizure, Impaired temperature sensat... OMIM:268800
Pick Disease Of Brain
Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotional blunting, Abnormal rep... OMIM:172700
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Aggressive behavior, Tremor, Gait ataxia, Seizure, Abdominal obesity, Emotional la... OMIM:300354
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing, Bruxism OMIM:612337
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Bilateral tonic-clonic seizure, Aggressive behavior, Babinski sign, Seizure, ... ORPHA:364028
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Myoclonic seizure OMIM:619690
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Seizure, Abnormal repetitive mannerisms OMIM:613443
Parkinson Disease, Late-Onset
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dysphagia, Sh... OMIM:168600
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Generalized-onset seizure, Tremor, Hypoesthesia, Obesity, Hemipares... OMIM:619737
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Bilateral tonic-clonic seizure, Congestive heart failure, Abnorma... OMIM:540000
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Lower limb spasticity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Inability to walk... OMIM:617193
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Dystonia, Aggressive behavior, Seizure, Hypertonia, Gait distur... OMIM:300352
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Dystonia, Ataxia, Rigidity, Unsteady gait, Limb ataxia, Gait ataxia... ORPHA:98760
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Seizure, Low frustration tolerance, Spasticity, Abnormal repetitive m... OMIM:300486
Congenital Insensitivity To Pain With Severe Intellectual Disability
Pain insensitivity, Bilateral tonic-clonic seizure, Small for gestational age, Impaired tactile s... ORPHA:453510
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Seizure, Brad... ORPHA:66529
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Testicular atrophy, Decreased fertility, Fasciculations OMIM:313200
Perry Syndrome
Parkinsonism, Tremor, Weight loss, Abnormality of extrapyramidal motor function, Hypotension ORPHA:178509
Sialidosis Type 2
Tremor, Seizure, Ataxia ORPHA:87876
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Mitochondrial Complex I Deficiency, Nuclear Type 28
Lower limb spasticity, Generalized-onset seizure, Akinesia, Abnormal pyramidal sign, Choreoatheto... OMIM:618249
Sneddon Syndrome
Tremor, Seizure, Chorea, Hemiparesis ORPHA:820
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia, Gait disturbance, Cachexia ORPHA:157973
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Impaired distal vibration sensation, Babinski sign, Spastic paraplegia, Tetraplegia, Pseu... OMIM:616586
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ... OMIM:615538
East Syndrome
Salt craving, Ataxia, Generalized-onset seizure, Inability to walk, Seizure, Difficulty walking, ... ORPHA:199343
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Myoclonic seizure, Seizure, Irritability, Te... OMIM:617186
Pelizaeus-Merzbacher Disease In Female Carriers
Lower limb spasticity, Generalized-onset seizure, Inability to walk, Babinski sign, Gait disturba... ORPHA:280229
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive beh... OMIM:620330
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab... OMIM:616393
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... OMIM:617865
Hereditary Late-Onset Parkinson Disease
Resting tremor, Dystonia, Parkinsonism, Akinesia, Impulsivity, Rigidity, Weight loss, Bradykinesi... ORPHA:411602
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy OMIM:192600
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Maternally-Inherited Diabetes And Deafness
Ataxia, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:225
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Spinocerebellar Ataxia Type 42
Resting tremor, Upper limb postural tremor, Unsteady gait, Babinski sign, Gait ataxia, Depression... ORPHA:458803
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis... OMIM:615474
Typhoid
Gastrointestinal hemorrhage, Ataxia, Epistaxis, Cardiac arrest, Tremor, Hypertonia, Lethargy, Arr... ORPHA:99745
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Seizure, Myoclonus, G... OMIM:616640
Crigler-Najjar Syndrome Type 1
Tremor, Seizure ORPHA:79234
Snijders Blok-Campeau Syndrome
Speech apraxia, Broad-based gait, Infantile spasms, Unsteady gait, Myoclonic seizure, Attention d... OMIM:618205
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Aggressive behavior, Obesity, Self-injurious behavior, Seizure... OMIM:600430
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Gait ataxia, Seizure,... ORPHA:255210
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Progressive spastic paraparesis, Hoffmann... ORPHA:206448
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... OMIM:615530
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Seizure, Dysphag... ORPHA:258
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Classic Phenylketonuria
Tremor, Paraplegia, Depression, Self-injurious behavior, Seizure, Hypertonia, Attention deficit h... ORPHA:79254
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Obses... OMIM:618825
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Generalized-onset seizure, Status epilepticus ORPHA:564178
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Difficulty walking, ... ORPHA:280210
Oculopharyngodistal Myopathy 3
Tremor, Ataxia, Dysphagia OMIM:619473
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Attention defic... OMIM:619121
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Broad-based gait, Ataxia, Mildly reduced left ventricular ejection fraction, Dysmetria, Arrhythmia OMIM:618098
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dy... OMIM:614381
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Tremor OMIM:607734
Oromandibular Dystonia
Limb dystonia, Torticollis, Generalized dystonia, Bruxism, Weight loss, Blepharospasm, Depression... ORPHA:93958
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Depression,... OMIM:617675
Primary Progressive Freezing Gait
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Dysphagia, Bradykinesia, Shuffli... ORPHA:75567
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Self hugging, Increased body weight, Head-banging, Seizur... OMIM:182290
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Hemiplegia/hemiparesis, Seizure, Arrhythmia, Lethargy, Hypertrophic cardiom... ORPHA:156
Biotinidase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Spastic p... ORPHA:79241
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Focal-onset seizure, Inability to walk, Seizure, Status epilepticus, Dysphagia, Abnormal repetiti... OMIM:617802
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:250972
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Weight loss ORPHA:85447
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Kinsship Syndrome
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ... OMIM:619297
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... OMIM:181350
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Loss of ambulation, Arrhythmia, Gait disturbance OMIM:616516
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, ... ORPHA:447753
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Obesity, Choreoathetosis, Seizure, Attention deficit hyperactivity disorder, Dyst... ORPHA:261197
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... ORPHA:75566
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... OMIM:234200
Developmental And Epileptic Encephalopathy 95
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Focal-onset seizu... OMIM:618143
Infantile Refsum Disease
Ataxia, Spasticity, Cardiomyopathy, Seizure, Arrhythmia, Failure to thrive ORPHA:772
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Poor coordination, Generalized non-motor (ab... ORPHA:466943
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Bilateral tonic-clonic seizure with focal onset, Aggressive behavio... ORPHA:488627
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... ORPHA:33543
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Seizure, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Pr... ORPHA:512
Nmda Receptor Encephalitis
Generalized-onset seizure, Involuntary movements, Oculogyric crisis, Rigidity, Hypersexuality, Ch... ORPHA:217253
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Warburg Micro Syndrome 3
Lower limb spasticity, Bilateral tonic-clonic seizure, Inability to walk, Spastic tetraplegia, My... OMIM:614222
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... ORPHA:199351
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Seizure, Positive ... OMIM:105210
Hemochromatosis, Type 2A
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Lethargy, Arrhythmia OMIM:602390
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia... ORPHA:1215
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Seizure, Ataxia, Depression ORPHA:79095
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
X-Linked Intellectual Disability, Cantagrel Type
Seizure, Abnormal repetitive mannerisms, Tetraparesis ORPHA:85277
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Seizure, Gait imbalance, Attention def... OMIM:619312
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Weaver Syndrome
Bilateral tonic-clonic seizure, Slurred speech, Generalized non-motor (absence) seizure, Poor fin... OMIM:277590
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Niemann-Pick Disease Type C
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Low ... ORPHA:646
Glutaryl-Coa Dehydrogenase Deficiency
Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Rigidity, Cho... ORPHA:25
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impaired proprioception, Abnormal ... OMIM:606002
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal impaired awareness seizur... OMIM:619983
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus,... OMIM:254900
Congenital Disorder Of Glycosylation, Type Ie
Ataxia, Tremor, Telangiectasia, EEG abnormality, Seizure, Failure to thrive OMIM:608799
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... ORPHA:309155
Sialidosis Type 1
Ataxia, Tremor, Slurred speech, Seizure, Gait disturbance, Myoclonus ORPHA:812
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Bruxism, De... OMIM:618342
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremor, Unsteady gait, A... OMIM:614947
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Bilateral tonic-clonic seizure, Facial-lingual fasci... OMIM:617281
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Gait ataxia, Seizure, Attention deficit hyperactivity disorder, Comp... ORPHA:476126
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Small for gestational age, Aggressive b... ORPHA:268261
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing, Failure to thrive OMIM:614857
Japanese Encephalitis
Dystonia, Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfunction, Anorexi... ORPHA:79139
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Generalized non-motor (absenc... ORPHA:369837
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Inability to walk... OMIM:218000
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, H... ORPHA:447997
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Involuntary movements, Infantile spasms, Myoclonic seizure, Dysphagia, Spasticity, Abnormal repet... ORPHA:572013
Cystathioninuria
Tremor, Seizure ORPHA:212
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Agitation, Gait imbalance... ORPHA:2828
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Ataxia, Bilateral tonic-clonic seizure, Seizure, Hypertonia, Myoclonus, Spasticity, Failure to th... OMIM:618426
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Tremor, Seizure, Status epilepticus, Myoclonus, Dysphagia, Loss of ambulation, Right hemi... OMIM:607426
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Seizure, Pica, Generalized non-motor (absence) seizure OMIM:617360
Isolated Atp Synthase Deficiency
Ataxia, Dilated cardiomyopathy, Spastic paraplegia, Tetraplegia, Myoclonic seizure, Seizure, Arrh... ORPHA:254913
Autism, Susceptibility To, 3
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Childhood Disintegrative Disorder
Seizure, Abnormal repetitive mannerisms, Abnormal emotion ORPHA:168782
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Non-Functioning Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Weight loss, Palpita... ORPHA:94080
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Ataxia, Cardiomyopathy ORPHA:3222
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal pyramidal sign, Opisthotonus OMIM:271900
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypertonia, Generalized myoclonic seiz... OMIM:615501
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Friedreich Ataxia
Abnormal EKG, Ataxia, Congestive heart failure, Babinski sign, Limb ataxia, Gait ataxia, Hypertro... OMIM:229300
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P... ORPHA:97355
Nipah Virus Disease
Tremor, Seizure, Myoclonus, Anorexia ORPHA:99825
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Ataxia, Tremor, Emotional lability, Irritability, Lethargy, Failure to thrive OMIM:201100
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Glass Syndrome
Restlessness, Hyperactivity, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavio... OMIM:612313
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Tyrosinemia Type 2
Tremor, Seizure, Ataxia ORPHA:28378
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal... ORPHA:363558
Galloway-Mowat Syndrome 6
Seizure, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight OMIM:618347
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Gen... OMIM:614756
Hyperlysinemia
Hyperactivity, Neck hypertonia, Poor motor coordination, Simple febrile seizure, Spastic tetrapar... ORPHA:2203
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure, Head-banging OMIM:619356
Pelger-Huet Anomaly
Seizure, Lower limb hypertonia, Failure to thrive, Bilateral tonic-clonic seizure OMIM:169400
Insulinoma
Tremor, Increased body weight, Seizure, Paresthesia, Abnormality of pain sensation, Lethargy, Pol... ORPHA:97279
Niemann-Pick Disease, Type C2
Dystonia, Ataxia, Seizure, Dysphagia, Cataplexy, Spasticity, Abnormal repetitive mannerisms OMIM:607625
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure OMIM:600721
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Decreased nerve conduction velocity, Tremor, Cardiomyopathy, Fasciculations, Diffic... ORPHA:329478
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Se... OMIM:615356
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Intention tremor, Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure, Clonus, Spastic tetraparesis, Babinski sign, Severe failure to th... ORPHA:423479
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Tachycardia, Weight loss, Periodic paralysis OMIM:613239
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Febrile seizure (within the age range of 3 months to 6 years), Abnormal electro... OMIM:609438
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce... OMIM:619510
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
De Sanctis-Cacchione Syndrome
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Scissor gait, Choreoathetosis, Hypertonia,... OMIM:278800
Alexander Disease
Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Depression, Self-injurious ... ORPHA:58
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Seizure, Failure to thrive, ... OMIM:610883
Hyperphosphatasia-Intellectual Disability Syndrome
Ataxia, Bilateral tonic-clonic seizure, Seizure, Gait disturbance, Myoclonus, Oculomotor apraxia ORPHA:247262
Proximal 16P11.2 Microduplication Syndrome
Tremor, Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Failure to thriv... ORPHA:370079
Isolated Permanent Neonatal Diabetes Mellitus
Ataxia, Bilateral tonic-clonic seizure, Weight loss, Apraxia, Generalized myoclonic seizure, Fail... ORPHA:99885
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Inability to walk, Focal-onset seizure, Spastic tetraplegia, Spastic... ORPHA:300570
Wars2-Related Combined Oxidative Phosphorylation Defect
Limb dystonia, Multifocal seizures, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dys... ORPHA:572798
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Seizure, Low frustration tolerance, Abnormal temper t... ORPHA:457279
Lissencephaly Due To Tuba1A Mutation
Focal-onset seizure, Spasticity, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:171680
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Leber Optic Atrophy
Postural tremor, Arrhythmia, Ataxia, Dystonia OMIM:535000
Leukoencephalopathy With Ataxia
Action tremor, Limb ataxia, Gait ataxia OMIM:615651
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Appendicular spasticity, Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myo... OMIM:620070
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Clumsiness, Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... OMIM:615656
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... ORPHA:85451
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Aggressive behavior OMIM:616083
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Gm1 Gangliosidosis
Generalized dystonia, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Dystonia, Tr... ORPHA:354
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Decreased proportion of CD8-positive T cells, Hypereosinophilia, Opisthotonus,... ORPHA:508533
Wolfram Syndrome 1
Tremor, Seizure, Ataxia, Dysphagia OMIM:222300
Sneddon Syndrome
Cerebral hemorrhage, Tremor, Hypertension, Seizure, Ischemic stroke, Hemiplegia OMIM:182410
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Seizure, Irritability, A... ORPHA:449291
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Seizure, Abnormal repetitive mannerisms ORPHA:238750
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Decreased body weight OMIM:278760
Melas
Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Dep... ORPHA:550
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Seizure, Generalized-onset seizure, Status epilepticus OMIM:618314
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, Truncal ataxia, Ato... OMIM:620066
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Seizure, Attenti... OMIM:619680
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz... ORPHA:466950
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Small for gestational age, Overweight, Pica, Seizure, Irritability, Obsessive-comp... OMIM:617796
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Weight loss, Palpitations, Periodic paralysis OMIM:188580
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Smith-Magenis Syndrome
Failure to thrive in infancy, Impaired pain sensation, Obesity, Self-injurious behavior, Seizure,... ORPHA:819
Dilated Cardiomyopathy With Ataxia
Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Seizure, Dystonia, Action tremor ORPHA:66634
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Frequent falls, Abnormal auditory evoked potentials OMIM:617523
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Spastic tetraplegia, ... ORPHA:3240
White-Sutton Syndrome
Waddling gait, Hyperactivity, Aggressive behavior, Obesity, Hypoglycemic seizures, Self-injurious... OMIM:616364
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Parkinsonism, Cardiomyopathy, Seizure, Gait disturbance, Bradycardia, Arrhythmia OMIM:609286
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Clonic seizure, Hypertonia, Tics, Compulsive behaviors, Decreased body weight, Abnormal r... OMIM:619475
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Babinski sign, C... ORPHA:746
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Seizure, Compulsive beh... OMIM:617061
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Chronic Visceral Acid Sphingomyelinase Deficiency
Ataxia, Generalized non-motor (absence) seizure, Depression, Attention deficit hyperactivity diso... ORPHA:77293
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... OMIM:208900
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Incoordination, Impaired pain sensation, Gait ataxia, Abnormal repetitive mannerisms, Overfriendl... OMIM:616579
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
EEG abnormality, Arrhythmia OMIM:273400
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Bradycardia, Arrhythm... ORPHA:330001
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Seizure, Abnormal repetitive mannerisms ORPHA:529965
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Arrhythmia, Seizure, Ataxia OMIM:249270
Cystinosis
Abnormal pyramidal sign, Gait disturbance, Polydipsia, Failure to thrive, Abnormal repetitive man... ORPHA:213
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi... OMIM:620141
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Arrhythmia, Cardiac arrest, Myoclonus ORPHA:168593
Ddost-Cdg
Tremor, Seizure, Failure to thrive, Oromotor apraxia ORPHA:300536
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Seizure, Vocal cord paralysis, Tremor ORPHA:397744
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Small for gestational age, Bilateral tonic-clonic sei... OMIM:620024
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance ORPHA:83629
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Unsteady gait, Seizure, Hypertonia, Failure to thrive, Abnormal repetitive m... OMIM:212066
Cri-Du-Chat Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Hypertonia, Difficulty walking, Ab... OMIM:123450
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Bilateral tonic-clonic seizure, Tremor, Seizure, Dystonia OMIM:610505
Citrullinemia Type Ii
Restlessness, Hyperactivity, Abnormal eating behavior, Aggressive behavior, Tremor, Seizure, Irri... ORPHA:247585
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Acquired Methemoglobinemia
Tachycardia, Seizure, Syncope, Palpitations, Arrhythmia ORPHA:464453
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,... OMIM:619260
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, ... ORPHA:313892
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Joubert Syndrome With Renal Defect
Ataxia, Tremor, Seizure, Gait disturbance, Oculomotor apraxia ORPHA:220497
Muscular Dystrophy, Duchenne Type
Waddling gait, Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Ti... OMIM:310200
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Tremor, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic movements, Myoclonus, Dyston... OMIM:616271
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Failure to thrive, Atrial fibrillation, Ataxia, Tremor, Rigidity, Dilated cardiom... ORPHA:254892
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Paralysis, Tremor, Shortened PR interval, Obesity, Tetraplegia, Weight los... ORPHA:79102
Familial Multiple Nevi Flammei
Pulmonary embolism, Intracranial hemorrhage, Seizure, Hemiparesis, Hemiplegia, Arrhythmia ORPHA:624
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Joubert Syndrome
Ataxia, Tremor, Seizure, Gait disturbance, Oculomotor apraxia ORPHA:475
Pyruvate Carboxylase Deficiency
Failure to thrive, Dystonia, Ataxia, Anorexia, Infantile spasms, Generalized clonic seizure, Trem... ORPHA:3008
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Seizure, Arrhythmia ORPHA:2151
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Congestive heart failure, Hypertonia, Gait distu... ORPHA:682
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Ataxia, Inability to walk, Seizure, Hypertonia, Convulsive status epilepticus, Spasticity OMIM:608885
Tetanus
Tachycardia, Tremor, Rigidity, Opisthotonus, Hypertension, Hypertonia, Bradycardia, Spasticity of... ORPHA:3299
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Amish Lethal Microcephaly
Irritability, Bilateral tonic-clonic seizure, Limb hypertonia ORPHA:99742
Megalocornea-Intellectual Disability Syndrome
Seizure, Abnormal repetitive mannerisms, Ataxia ORPHA:2479
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Tremor, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdia... ORPHA:502423
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Failure to thrive, Right ventricular failure, Thi... ORPHA:1329
Infantile Krabbe Disease
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction... ORPHA:206436
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seizure, Bruxism, O... OMIM:615873
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Small for gestational age, Overweight, Dilated cardiomyopathy... ORPHA:26793
Joubert Syndrome 6
Oculomotor apraxia, Abnormal repetitive mannerisms, Ataxia OMIM:610688
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykin... OMIM:601104
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Bilateral tonic-clonic seizure OMIM:619278
Pgm3-Cdg
Hemolytic anemia, Lymphopenia, Ataxia, Abnormal proportion of CD8-positive T cells, Eosinophilia,... ORPHA:443811
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Abnormal autonomic nervous syste... OMIM:616840
Pilarowski-Bjornsson Syndrome
Speech apraxia, Seizure, Abnormal repetitive mannerisms OMIM:617682
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Seizure, Tics, Attention deficit hyperactivity disorder OMIM:617808
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting, Seizure, Abnormal repetitive mannerisms ORPHA:3306
Neuromuscular Oculoauditory Syndrome
Unsteady gait, Bilateral tonic-clonic seizure, Infantile spasms OMIM:618733
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Broad-based gait, Cachexia, Aggressive behavior, Tremor, Obesity, Seizure ORPHA:85293
Thrombotic Thrombocytopenic Purpura
Seizure, Arrhythmia, Myocardial infarction ORPHA:54057
Dpagt1-Cdg
Epileptic spasm, Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Focal motor se... ORPHA:86309
Serotonin Syndrome
Restlessness, Clonus, Tremor, Rigidity, Seizure, Irritability, Hypertonia, Agitation, Myoclonus ORPHA:43116
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... OMIM:609136
5Q14.3 Microdeletion Syndrome
Seizure, Abnormal repetitive mannerisms ORPHA:228384
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Alazami Syndrome
Abnormal eating behavior, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical... ORPHA:319671
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Ataxia, Small for gestational age, Tremor, Hypertension, Seizure, Arrhythmia, Hypertrophic cardio... OMIM:614052
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Hypertonia, Bilateral tonic-clonic seizure ORPHA:79350
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability to walk, Babinski si... ORPHA:466768
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Seizure, Typical absence seizure OMIM:618343
Molybdenum Cofactor Deficiency, Complementation Group B
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Irritability, Hyperto... OMIM:252160
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme... ORPHA:522077
Joubert Syndrome With Ocular Defect
Ataxia, Tremor, Seizure, Gait disturbance, Oculomotor apraxia ORPHA:220493
Rheumatic Fever
Pericarditis, Epistaxis, Myocarditis, Chorea, Gait disturbance, Fasciculations, Hemiballismus, Ar... ORPHA:3099
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Aggressive behavior, Tongue thrusting, Unsteady gait, ... OMIM:606232
Chronic Bilirubin Encephalopathy
Cerebral palsy, Hypertonia, Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Hypertonia, Sensorineural hearing impairment, Cerebral palsy, Abnormal auditory evoked potentials ORPHA:529799
Chromosome 5P13 Duplication Syndrome
Small for gestational age, Self-injurious behavior, Seizure, Compulsive behaviors, Abnormal repet... OMIM:613174
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Large for gestational age, Tremor, Increased body weight, Seizure, Lethargy ORPHA:263455
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Congenital Disorder Of Glycosylation, Type Ij
Infantile spasms, Tremor, Hypsarrhythmia, Seizure, Hypertonia OMIM:608093
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... ORPHA:1677
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Impaired pain sensation, Inability to walk, Typical absence seizure, Seizure, Bruxism ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Impaired pain sensation, Inability to walk, Typical absence seizure, Seizure, Bruxism ORPHA:352665
Intellectual Developmental Disorder, Autosomal Recessive 71
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Mitochondrial Complex I Deficiency, Nuclear Type 1
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Tongue fasciculations, Lethargy, Spasticit... OMIM:252010
Kearns-Sayre Syndrome
Ataxia, Cardiomyopathy, Seizure, Third degree atrioventricular block, Arrhythmia OMIM:530000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Left bundle branch block, Seizure, Arrhythmia, Failure to thrive, Ventricular bigeminy OMIM:610131
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Congestive heart failure, Dilated cardiomyopathy, Lethargy, Arrhythmia... OMIM:609015
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Mercury Poisoning
Tachycardia, Tremor, Hypertension, Seizure, Hypotension, Dystonia ORPHA:330021
Cockayne Syndrome Type 1
Lower limb spasticity, Absent brainstem auditory responses, Ataxia, Tremor, Cryptorchidism, Optic... ORPHA:90321
Kallmann Syndrome
Ataxia, Tremor, Obesity, Paraplegia, Seizure, Gait disturbance ORPHA:478
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Self-injurious b... OMIM:612474
Scorpion Envenomation
Bundle branch block, Tachycardia, Hemifacial spasm, Ataxia, Cardiac conduction abnormality, Tremo... ORPHA:466677
Gaucher Disease
Ataxia, Bilateral tonic-clonic seizure, Tremor, Hemiplegia/hemiparesis, Oculomotor apraxia, Depre... ORPHA:355
Blepharophimosis-Impaired Intellectual Development Syndrome
Seizure, Low frustration tolerance, Attention deficit hyperactivity disorder, Abnormal repetitive... OMIM:619293
Hypotonia, Ataxia, And Delayed Development Syndrome
Speech apraxia, Pain insensitivity, Broad-based gait, Ataxia, Truncal ataxia, Dysmetria, Gait ata... OMIM:617330
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Scrub Typhus
Tremor, Myocarditis, Seizure, Hypotension, Lethargy ORPHA:83317
Charcot-Marie-Tooth Disease Type 4B2
Tremor, Inability to walk, Vocal cord paralysis, Distal sensory impairment, Poor fine motor coord... ORPHA:99956
Cerebrotendinous Xanthomatosis
Resting tremor, Optic disc pallor, Dystonia, Ataxia, Parkinsonism, Abnormal auditory evoked poten... ORPHA:909
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Generalized non-motor (absence) seizure, Hypotension ORPHA:293978
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Imp... OMIM:146500
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Hearing impairment, Tremor, Cryptorchidism, Fasciculations, Limb hy... OMIM:620327
Refsum Disease, Classic
Cardiomyopathy, Arrhythmia, Ataxia, Congestive heart failure OMIM:266500
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Bilateral tonic-clonic seizure, Myocar... ORPHA:90068
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Weight loss, Palpita... ORPHA:276621
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Bilateral tonic-clonic seizure OMIM:201475
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Arrhythmia, Seizure OMIM:255120
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms ORPHA:397612
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Ataxia, Small for gestational age, Choreoathetosis, Seizure, Arrhythmia, Dystonia, Hypertrophic c... OMIM:615471
Combined Oxidative Phosphorylation Defect Type 29
Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Pitt-Hopkins Syndrome
Incoordination, Gait ataxia, Self-injurious behavior, Seizure, Abnormal repetitive mannerisms OMIM:610954
W Syndrome
Spasticity, Bilateral tonic-clonic seizure ORPHA:2804
Hallermann-Streiff Syndrome
Choreoathetosis, Hyperactivity, Bilateral tonic-clonic seizure, Small for gestational age OMIM:234100
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype... OMIM:301500
Intellectual Developmental Disorder, Autosomal Dominant 48
Seizure, Hyperactivity, Abnormal repetitive mannerisms OMIM:617751
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Bainbridge-Ropers Syndrome
Failure to thrive, Inability to walk, Self-injurious behavior, Seizure, Hypertonia, Recurrent han... OMIM:615485
Ogden Syndrome
Torticollis, Cardiogenic shock, Hypertonia, Shuffling gait, Lethargy, Arrhythmia ORPHA:276432
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
White-Sutton Syndrome
Hyperactivity, Incoordination, Aggressive behavior, Obesity, Self-injurious behavior, Seizure, Fo... ORPHA:468678
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Arrhythmia, Pulmonic stenosis ORPHA:228410
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Hypertonia, Abnormal r... OMIM:618914
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure, Large for gestational age, Gait ataxia, Difficulty walking, Slend... ORPHA:457359
Encephalitis Lethargica
Parkinsonism, Tremor, Seizure, Bradycardia, Lethargy ORPHA:83600
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia OMIM:606069
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Vici Syndrome
Seizure, Abnormal posturing, Failure to thrive, Dysphagia OMIM:242840
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... ORPHA:398124
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure, Failure to thrive in infancy, Paraparesis, Paraplegia, Hemiparesis ORPHA:79124
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Cardiomyopathy, Seizure, Hypotension, Lethargy, Arrhythmia ORPHA:159
Ebstein Malformation Of The Tricuspid Valve
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... ORPHA:1880
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hypertrophic cardiomyopathy, Seizure, Arrhythmia ORPHA:1194
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Focal-onset seizure, Seizure, Febrile ... ORPHA:459070
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, D... OMIM:612199
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left ventricular noncompaction cardiomyopathy, Clonus, Tremor, Cardiogenic shock, Dilated cardiom... OMIM:619424
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Small for gestational age, Tetraplegia, Seizure, Generalized myoc... OMIM:257300
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Large for gestational age, Myoclonic seizure, G... OMIM:280000
Webb-Dattani Syndrome
Spasticity, Bilateral tonic-clonic seizure, Obesity OMIM:615926
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Tremor, Spastic diplegia, Tetraparesis, Failure to thrive OMIM:613179
22Q11.2 Duplication Syndrome
Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive beh... ORPHA:1727
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... ORPHA:3044
Orofaciodigital Syndrome Type 6
Ataxia, Tremor, Seizure, Gait disturbance, Failure to thrive ORPHA:2754
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Self-injurious b... OMIM:619512
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Seizure, Abnormal repetitive mannerisms ORPHA:500159
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Generalized-onset seizure, Incoordination, Anorexia,... ORPHA:297
Hermansky-Pudlak Syndrome 10
Bilateral tonic-clonic seizure, Focal myoclonic seizure, Dystonia OMIM:617050
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Unsteady gait, Polyphagia, Obesity, Dysmetria,... ORPHA:96121
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Epileptic spasm, Rigidity, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Status e... ORPHA:2636
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Seizure, Spasticity, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure OMIM:301040
Familial Isolated Hypoparathyroidism
Seizure, Arrhythmia ORPHA:2238
Mogs-Cdg
Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... ORPHA:79330
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Abnormal repetitive manne... OMIM:620073
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Seizure, Attention deficit hyperactivity disorder, Frequent temper tantrums, Abnorm... OMIM:619103
Foodborne Botulism
Arrhythmia, Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Failure to thrive in infancy, Arrhythmia, Weight loss ORPHA:171876
Kleefstra Syndrome 1
Aggressive behavior, Obesity, Seizure, Compulsive behaviors, Abnormal repetitive mannerisms OMIM:610253
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Chediak-Higashi Syndrome
Tremor, Seizure, Ataxia, Gait disturbance OMIM:214500
Mitochondrial Trifunctional Protein Deficiency 2
Seizure, Bilateral tonic-clonic seizure OMIM:620300
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Weight loss, Hypotension, Arrhythmia ORPHA:188
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Obesity ORPHA:3191
Lujo Hemorrhagic Fever
Seizure, Bilateral tonic-clonic seizure, Resting tremor, Dysphagia ORPHA:319213
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dilated cardiomyopathy OMIM:615084
Symptomatic Form Of Hfe-Related Hemochromatosis
Portal hypertension, Congestive heart failure, Weight loss, Cardiomyopathy, Arrhythmia, Lethargy,... ORPHA:465508
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Weight loss, Palpita... ORPHA:29072
Friedreich Ataxia 2
Abnormal EKG, Incoordination, Ataxia, Congestive heart failure, Babinski sign, Concentric hypertr... OMIM:601992
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Seizure, Attention deficit hyperactivity disorder, Decreased body weight... OMIM:619005
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Simple febrile seizure, Seizure, Gait disturbance, Attention deficit h... ORPHA:464311
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Large for gestational age, Congestive ... ORPHA:363705
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis, Large for gestational age OMIM:611553
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
2Q37 Microdeletion Syndrome
Obesity, Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal repeti... ORPHA:1001
Hydrops Fetalis
Arrhythmia, Small for gestational age, Capillary leak ORPHA:1041
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Congestive heart failure, Cardiomyopathy, Seizure, Fatigable weakness of neck ... ORPHA:26791
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Failure to thrive, Cerebral ischemia ORPHA:60040
Giant Cell Arteritis
Pericarditis, Ataxia, Epistaxis, Sudden cardiac death, Vasculitis, Weight loss, Cerebral ischemia... ORPHA:397
Mgat2-Cdg
Infantile spasms, Hypsarrhythmia, Seizure, Reflex asystolic syncope, Arrhythmia, Failure to thrive ORPHA:79329
Botulism
Arrhythmia, Cerebral palsy, Diaphragmatic paralysis ORPHA:1267
Foxg1 Syndrome Due To 14Q12 Microdeletion
Seizure, Abnormal repetitive mannerisms ORPHA:261144
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Obesity, Seizure, Mitral regurgitation, Arrhythmia ORPHA:254346
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Cockayne Syndrome A
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Cryptorchidism, D... OMIM:216400
Autosomal Dominant Hypocalcemia
Writer's cramp, Congestive heart failure, Fatigable weakness, Hypotension, Arrhythmia, Cortical m... ORPHA:428
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Overweight, Head-banging, Self-injurious behavior, Seizure, Attention deficit hyperactivity disor... OMIM:619575
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Weight loss, Reduced left ventricula... ORPHA:85443
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Small for gestational age, Seizure, Gait disturbance, Febrile seizure (within the ... ORPHA:464306
African Trypanosomiasis
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Ag... ORPHA:3385
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Epileptic spasm, Exaggerated startle response, Involuntary movements, Dystonia,... ORPHA:438213
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apraxia, ... OMIM:607485
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Failure to thrive in infancy, Generalized non-motor (absence) seizure,... ORPHA:500150
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Focal-onset seizure, Typical absence seizure, Obesity, Failure to thrive, Atonic seizure OMIM:617157
Hemochromatosis, Type 1
Cardiomyopathy, Arrhythmia, Congestive heart failure, Telangiectasia OMIM:235200
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy ORPHA:352447
Trisomy 10P
Poor motor coordination, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with ... ORPHA:171929
Sotos Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Poor coordination, Generalized non-m... ORPHA:821
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Seizure, Low frustration tolerance, Dysphagia, Failure to thr... ORPHA:319182
Cockayne Syndrome B
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Cryptorchidism, D... OMIM:133540
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Spastic tetraparesis, Foca... OMIM:301044
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
American Trypanosomiasis
Myocarditis, Cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:3386
Oculopharyngodistal Myopathy 1
Ataxia, Tremor, Weight loss, Difficulty walking, Dysphagia OMIM:164310
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Impaired pain sensation, Inability to walk, Focal-onset seizure, Bruxis... ORPHA:2152
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Cardiomyopathy, Arrhythmia, Seizure ORPHA:228305
Kleefstra Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, S... ORPHA:261494
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Impaired pain sensation, Inability to walk, Focal-onset seizure, Bruxism, Poor ... ORPHA:261537
Legionnaires Disease
Pericarditis, Ataxia, Myocarditis, Hypotension, Arrhythmia ORPHA:549
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Palpitations, Hyp... ORPHA:100078
D-Bifunctional Protein Deficiency
Seizure, Failure to thrive, Bilateral tonic-clonic seizure OMIM:261515
Neuroleptic Malignant Syndrome
Tachycardia, Extrapyramidal muscular rigidity, Oculogyric crisis, Pulmonary embolism, Tremor, Cho... ORPHA:94093
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis OMIM:617877
Genetic Recurrent Myoglobinuria
Fatigable weakness of swallowing muscles, Arrhythmia, Difficulty walking ORPHA:99845
Hydroxykynureninuria
Hypertonia, Abnormal repetitive mannerisms ORPHA:79155
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Ataxia, Impulsivity, Aggressive behavior, Tremor, Seizure, Slender build OMIM:300967
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Seizure, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Generalized-onset seizure, Ataxia, Dystonia, Small for gestational age, Tremor, Dysmetria, Dyspha... OMIM:220111
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Seizure, Hypertonia, Bradycardia, Dystonia, Failure to thrive OMIM:617248
Carpenter Syndrome 2
Tricuspid regurgitation, Generalized non-motor (absence) seizure, Obesity OMIM:614976
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Seizure, Hypotension, Arrhythmia, Failure to thrive ORPHA:2135
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal pyramidal sign, Self-injurious behavior, Seizure, Hypertonia, Hyperkinetic movements, Se... ORPHA:468631
Ogden Syndrome
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Irritability, Hypertonia,... OMIM:300855
Rauch-Steindl Syndrome
Hyperactivity, Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Hec Syndrome
Cardiomyopathy, Arrhythmia ORPHA:2119
Mend Syndrome
Cryptorchidism, Abnormal auditory evoked potentials, Low-set ears, Limb hypertonia ORPHA:401973
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Impaired pain sensation, Inability to walk, Focal-onset seizure, Bruxism, Poor ... ORPHA:261552
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Prader-Willi Syndrome Due To Translocation
Obesity, Head-banging, Seizure, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Att... ORPHA:177907
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia ORPHA:3201
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Seizure, Lethargy, Arrhythmia, Antenatal intracerebral hemorrhage OMIM:608836
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Localized Scleroderma
Raynaud phenomenon, Vasculitis, Seizure, Focal impaired awareness seizure, Arrhythmia ORPHA:90289
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Van Esch-O'Driscoll Syndrome
Impulsivity, Unilateral vocal cord paralysis, Seizure, Attention deficit hyperactivity disorder, ... OMIM:301030
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Seizure, Arrhythmia, Hemiparesis ORPHA:2874
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy... ORPHA:727
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Ataxia, Abnormal pyramidal sign, Spasticity, Seizure, Arrhythmia ORPHA:163746
Tuberous Sclerosis Complex
Hyperactivity, Epileptic spasm, Impulsivity, Aggressive behavior, Infantile spasms, Repetitive co... ORPHA:805
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia ORPHA:57
Agel Amyloidosis
Cardiomyopathy, Arrhythmia, Ataxia, Orthostatic hypotension due to autonomic dysfunction ORPHA:85448
Singleton-Merten Syndrome 2
Arrhythmia, Aortic valve stenosis OMIM:616298
Oculodentodigital Dysplasia
Ataxia, Spasticity, Seizure, Gait disturbance, Spastic paraparesis, Arrhythmia ORPHA:2710
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms, Obesity, Difficulty walking OMIM:618653
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Multifocal seizures, Aggressive behavior, Obesity, Seizure, Abnormal repetitive mannerisms OMIM:301066
1P36 Deletion Syndrome
Hemiplegia/hemiparesis, Polyphagia, Obesity, Self-injurious behavior, Seizure, Gait disturbance, ... ORPHA:1606
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Oculodentodigital Dysplasia
Ataxia, Paraparesis, Spasticity, Seizure, Tetraparesis, Arrhythmia OMIM:164200
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia ORPHA:31824
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Cardiomyopathy, Arrhythmia, Seizure ORPHA:228308
Arboleda-Tham Syndrome
Dystonia, Seizure, Lower limb hypertonia, Gait imbalance, Dysphagia, Abnormal repetitive mannerisms OMIM:616268
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... ORPHA:353281
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Small for gestational age, Poor coordination, Spastic diplegia, Seizure, Abnormal ... OMIM:309590
Dominant Beta-Thalassemia
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Failure to thrive in in... ORPHA:231226
Norrie Disease
Clonus, Cachexia, Self-injurious behavior, Seizure, Hypertonia, Irritability, Attention deficit h... ORPHA:649
16P11.2P12.2 Microdeletion Syndrome
Arrhythmia, Tricuspid regurgitation ORPHA:261211
Oculocerebrorenal Syndrome Of Lowe
Clonus, Depression, Self-injurious behavior, Seizure, Compulsive behaviors, Attention deficit hyp... ORPHA:534
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Arrhythmia, Seizure ORPHA:157
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Myocardial infarction, Arrhythmia, Pulmonic stenosis, Hypertrophic cardiomyo... ORPHA:500
Amoebiasis Due To Free-Living Amoebae
Ataxia, Hemiparesis, Seizure, Lethargy, Arrhythmia ORPHA:68
Holoprosencephaly
Failure to thrive in infancy, Chorea, Spasticity, Seizure, Dystonia, Arrhythmia ORPHA:2162
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Weight ... ORPHA:221
Schwartz-Jampel Syndrome
Cachexia, Blepharospasm, Hypertonia, Gait disturbance, Decreased body weight, Pulmonary arterial ... ORPHA:800
Primrose Syndrome
Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Seizure, Truncal obesity, Tic... OMIM:259050
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
Beta-Thalassemia Major
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Failure to thrive in in... ORPHA:231214
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Arrhythmia OMIM:619184
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia OMIM:171480
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Low-output congestive heart failure, Cardiomyopathy, Palpitations, Arrhythmia ORPHA:565612
Mucopolysaccharidosis Type 2
Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Abnormal temper tantrums, Abnormal repe... ORPHA:580
Doors Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure ORPHA:79500
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Lymphedema-Distichiasis Syndrome
Arrhythmia ORPHA:33001
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia ORPHA:3220
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Seizure, Arrhythmia, Junctional ectopic tachycardia OMIM:309801
Alström Syndrome
Somatic sensory dysfunction, Incoordination, Ataxia, Typical absence seizure, Obesity, Poor fine ... ORPHA:64
Holoprosencephaly 14
Bilateral tonic-clonic seizure OMIM:619895
Ulnar-Mammary Syndrome
Arrhythmia, Obesity ORPHA:3138
Familial Mediterranean Fever
Pericarditis, Myocardial infarction, Vasculitis, Seizure, Arrhythmia ORPHA:342
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... ORPHA:353277
Wiskott-Aldrich Syndrome
Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vasculitis, In... ORPHA:906
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Ivic Syndrome
Arrhythmia ORPHA:2307
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitatio... ORPHA:2556
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Hartsfield Syndrome
Bilateral tonic-clonic seizure OMIM:615465
Lowe Oculocerebrorenal Syndrome
Seizure, Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Kawasaki Disease
Pericarditis, Myocarditis, Congestive heart failure, Vasculitis, Arrhythmia ORPHA:2331
Lymphedema-Distichiasis Syndrome
Arrhythmia OMIM:153400
Mucopolysaccharidosis Type 2, Severe Form
Heart murmur, Cardiomyopathy, Seizure, Hypertension, Arrhythmia ORPHA:217085
Wolf-Hirschhorn Syndrome
Small for gestational age, Seizure, Failure to thrive, Abnormal repetitive mannerisms OMIM:194190
Mucopolysaccharidosis Type 2, Attenuated Form
Heart murmur, Cardiomyopathy, Seizure, Hypertension, Arrhythmia ORPHA:217093
Coffin-Siris Syndrome 12
Seizure, Failure to thrive, Abnormal repetitive mannerisms OMIM:619325
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Seizure, Attention deficit hyperactivity disorder, Dysphagia, Abnor... OMIM:619522
Plague
Tachycardia, Hematemesis, Unsteady gait, Slurred speech, Hypotension, Arrhythmia ORPHA:707
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Arrhythmia, Seizure, Failure to thrive OMIM:256040
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms ORPHA:508498
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Stickler Syndrome
Hemiplegia/hemiparesis, Arrhythmia, Slender build, Cachexia ORPHA:828
Costello Syndrome
Hypertrophic cardiomyopathy, Arrhythmia, Failure to thrive, Pulmonic stenosis OMIM:218040
Pagod Syndrome
Arrhythmia, Sudden cardiac death ORPHA:991
Sarcoidosis
Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,... ORPHA:797
Noonan Syndrome
Arrhythmia ORPHA:648
Kabuki Syndrome 1
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset OMIM:147920
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Arrhythmia ORPHA:285
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia OMIM:250220
Ulnar-Mammary Syndrome
Arrhythmia, Obesity OMIM:181450
Specc1L-Related Hypertelorism Syndrome
Arrhythmia ORPHA:1519
Simpson-Golabi-Behmel Syndrome, Type 1
Cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:312870

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hcn2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hcn2.

No publications found that use IMPC mice or data for Hcn2.

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