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Gene: Cacna1a MGI:109482

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Gene Summary

Name:
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Synonyms:
SCA6,  Cacnl1a4,  Ccha1a,  alpha1A,  smrl,  nmf352

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Cacna1aem1(IMPC)H HOM   Early adult 0.00
increased freezing behavior Cacna1aem1(IMPC)H HET Early adult 6.34×10-06

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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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

7 Images

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MicroCT E18.5

Embryo reconstruction

4 Images

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Human diseases caused by Cacna1a 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 Cacna1a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia OMIM:141500
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Falls, Myoclonus, Atypical absence seizure, ... ORPHA:2382
Developmental And Epileptic Encephalopathy 42
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Spinocerebellar Ataxia 6
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... OMIM:183086
Familial Paroxysmal Ataxia
Torticollis, Ataxia, Dystonia, Hemiplegia, Cerebellar vermis atrophy ORPHA:97
Episodic Ataxia, Type 2
Progressive cerebellar ataxia, Paresthesia, Dystonia, Episodic ataxia, Cerebellar vermis atrophy OMIM:108500
Spinocerebellar Ataxia Type 6
Incoordination, Babinski sign, Unsteady gait, Gait ataxia, Blepharospasm, Progressive cerebellar ... ORPHA:98758
Familial Or Sporadic Hemiplegic Migraine
Cerebellar atrophy, Involuntary movements, Impaired temperature sensation, Dissociated sensory lo... ORPHA:569
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Hyps... ORPHA:442835
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia ORPHA:71518
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Facial hypotonia, Ataxia, Tremor, Rigidity, Chorea, Episodic hemi... ORPHA:2131

The table below shows human diseases predicted to be associated to Cacna1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Ataxia, Sensory, 1, Autosomal Dominant
Babinski sign, Positive Romberg sign, Gait instability, worse in the dark, Sensory ataxia OMIM:608984
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... OMIM:615268
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Autosomal Dominant Focal Dystonia, Dyt25 Type
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... ORPHA:329466
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Slurred speech, Gait disturbance, Incoordination ORPHA:98766
Dystonia 25
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia OMIM:615073
Early-Onset Generalized Limb-Onset Dystonia
Hypertonia, Gait disturbance ORPHA:256
Vertigo, Benign Recurrent
Gait imbalance OMIM:193007
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Major Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Mania, Depression OMIM:125480
X-Linked Spastic Paraplegia Type 34
Lower limb spasticity, Babinski sign, Impaired vibration sensation in the lower limbs, Ankle clon... ORPHA:171607
Dravet Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Autosomal Recessive Spastic Paraplegia Type 32
Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pons morphology, Difficu... ORPHA:171622
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onse... OMIM:611726
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Cerebellar atrophy, Tremor, Gait ataxia, Spasticity ORPHA:217012
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Babinski sign, Impaired distal vibrat... OMIM:619742
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Generalized non-m... ORPHA:98811
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Sei... OMIM:600143
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... ORPHA:101010
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Laryngeal dystonia, Spastic paraplegia, Difficulty walking, Dystonia OMIM:619681
Spastic Paraplegia 61, Autosomal Recessive
Inability to walk, Spasticity, Spastic paraplegia, Scissor gait OMIM:615685
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... OMIM:602629
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... OMIM:607682
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia, Cerebellar hypoplasia OMIM:213000
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Spastic Paraplegia 24, Autosomal Recessive
Spasticity, Spastic paraplegia, Clonus, Tip-toe gait OMIM:607584
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Parkinsonism, Craniofacial dystonia ORPHA:370103
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Ceroid Lipofuscinosis, Neuronal, 11
Generalized myoclonic seizure, Seizure, Cerebellar atrophy, Ataxia OMIM:614706
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:614018
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene... OMIM:618141
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Seizure, Ataxia, Hemiplegia/hemiparesis ORPHA:1182
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... OMIM:616421
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Inabili... OMIM:616346
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... ORPHA:98765
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia OMIM:611694
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Dystonia 33
Axial dystonia, Axial hypotonia, Dystonia, Babinski sign, Limb dystonia, Spasticity OMIM:619687
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Paine Syndrome
Generalized myoclonic seizure, Cerebellar hypoplasia, Spastic diplegia, Olivopontocerebellar hypo... OMIM:311400
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus ORPHA:22
Neuhauser-Eichner-Opitz Syndrome
Ataxia, Rigidity, Hypotonia, Hypertonia, Spasticity ORPHA:2672
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigmen... OMIM:610003
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Seizure, Myoclonus, Intention... OMIM:618876
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Spastic Paraplegia 32, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Cerebral atrophy, A... OMIM:611252
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Limb ataxia, S... OMIM:617350
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... OMIM:617018
Dystonia 4, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Gait ataxia, Limb dystonia OMIM:128101
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-mo... OMIM:617810
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
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
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... ORPHA:36387
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus OMIM:254800
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... ORPHA:79137
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Seizure OMIM:615705
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Chiari type I malformatio... OMIM:617836
Angelman syndrome (Type 2)
Seizure, Truncal ataxia DECIPHER:54
Angelman syndrome (Type 1)
Seizure, Truncal ataxia DECIPHER:4
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Atypical absence sei... OMIM:617113
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Poor coordination, Focal motor seizure, Generalized non-motor (absence)... OMIM:617665
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign,... OMIM:614322
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... OMIM:615625
Continuous Spikes And Waves During Sleep
Speech apraxia, Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic... ORPHA:725
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
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Ataxia, Hypotonia, Seizure, EEG abnormality, Spasticity OMIM:619228
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Gait disturbance, Abnormality of extrapyramidal... OMIM:614561
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cerebellar agenesis ORPHA:1397
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w... ORPHA:139431
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... OMIM:615369
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Bilateral tonic-clonic seizure, Atrophy/Degeneration affecting the brainstem,... OMIM:616230
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG w... ORPHA:599373
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... ORPHA:307
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor OMIM:601238
Episodic Ataxia, Type 7
Episodic ataxia OMIM:611907
Episodic Kinesigenic Dyskinesia 2
Chorea, Dystonia, Involuntary movements, Paroxysmal dyskinesia OMIM:611031
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
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
Dystonia 23
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Typical absence seizure, Unstead... OMIM:616409
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... ORPHA:363710
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, ... OMIM:618090
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia
Episodic ataxia ORPHA:1179
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Paroxysmal dystonia, Focal hemifacial clonic seizure, EEG with parietal focal spike waves, Writer... ORPHA:163727
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Foc... OMIM:615362
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... ORPHA:94122
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1
Seizure, Spasticity, Ataxia OMIM:604004
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, EEG with photoparoxysmal respo... OMIM:615744
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... ORPHA:101108
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... ORPHA:423275
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor OMIM:608029
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Megalencephaly With Dysmyelination
Seizure, Spasticity, Ataxia, EEG with photoparoxysmal response OMIM:249240
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v... OMIM:616291
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus OMIM:208700
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Abnormal cerebellum morphology, Babinski sign, Generalized non-motor (absence) seizure, D... OMIM:618242
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Gen... ORPHA:86909
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o... ORPHA:101070
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia OMIM:141500
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia, Febrile seizure (within the age range of 3 mon... OMIM:618412
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Decreased miniature endplate potentials, Prolonged miniature endplate currents OMIM:616321
Periventricular Nodular Heterotopia 8
Seizure, Spasticity, Cerebellar vermis atrophy OMIM:618185
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:600131
Febrile Seizures, Familial, 8
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:607681
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... OMIM:605021
Primary Dystonia, Dyt21 Type
Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst... ORPHA:306734
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Seizure, Ataxia, Spastic tetraparesis OMIM:619061
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Spinocerebellar Ataxia 4
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... OMIM:600223
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Multifocal epileptiform discharges, Atypical absence seizure, Myocloni... OMIM:618596
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Lower limb spasticity, Ataxia, Cerebral atrophy, Seizure, Hypertonia, Upper l... OMIM:613925
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Autosomal Recessive Spastic Paraplegia Type 24
Clonus, Spastic paraplegia, Scissor gait, Tip-toe gait, Spasticity ORPHA:101004
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with genera... ORPHA:2590
Myasthenic Syndrome, Congenital, 15
Fatigable weakness OMIM:616227
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, EEG with frontal foca... ORPHA:98818
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Increased neuronal autofluorescent lipopigm... OMIM:162350
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Nescav Syndrome
Appendicular spasticity, Cerebellar atrophy, Ataxia, Inability to walk, Babinski sign, Cerebral a... OMIM:614255
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign OMIM:617770
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Falls, Myoclonus, Atypical absence seizure, ... ORPHA:2382
Dystonia 30
Torticollis, Writer's cramp, Leg dystonia, Seizure, Arm dystonia, Dystonia, Oromandibular dystoni... OMIM:619291
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Bilateral tonic-clonic seizure, Seizure, Brain atrophy, Myoclonic absence seizure OMIM:612621
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... ORPHA:276193
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure OMIM:617080
Isolated Cerebellar Agenesis
Seizure, Hypertonia, Ataxia ORPHA:1398
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Primary Dystonia, Dyt6 Type
Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary... ORPHA:98806
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, ... OMIM:610357
Nondisjunction
Decreased fertility OMIM:158250
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Axial hypotonia, Infantile spasms, Tonic seizure, Spastic tetraplegia, Hypsarrhythmia, Seizure, F... OMIM:251280
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... OMIM:619606
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, G... OMIM:618170
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Intellectual Developmental Disorder, Autosomal Dominant 46
Infantile spasms, Tonic seizure, Unsteady gait, Seizure, Focal impaired awareness seizure, Brain ... OMIM:617601
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Generalized dystonia, Corpus ... OMIM:619389
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... OMIM:616981
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Seizure, ... ORPHA:101112
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Dystonia 35, Childhood-Onset
Dystonia OMIM:619921
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (abs... OMIM:619157
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Cerebellar atrophy, Seizure, Brain atrophy, Spastic tetraparesis OMIM:618741
Spinocerebellar Ataxia 12
Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizu... OMIM:271980
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Limb ataxia, Dysmetria, Gait ... OMIM:117360
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure OMIM:617771
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Paroxysmal... OMIM:602066
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration, Generalized myoclonic seizure OMIM:610951
Obsessive-Compulsive Disorder
Collectionism, Compulsive behaviors, Skin-picking, Depression OMIM:164230
Congenital Disorder Of Glycosylation, Type Iiz
Appendicular spasticity, Seizure, Diffuse cerebellar atrophy, Clonus OMIM:620201
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... ORPHA:512260
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... OMIM:619565
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking ORPHA:85292
Autosomal Recessive Spastic Paraplegia Type 56
Babinski sign, Unsteady gait, Spastic paraplegia, Tip-toe gait, Dystonia, Spastic gait ORPHA:320411
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... ORPHA:95434
Developmental And Epileptic Encephalopathy 60
Epileptic spasm, Tonic seizure, Inability to walk, Spastic tetraplegia, Myoclonic seizure, Seizur... OMIM:617929
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ... OMIM:618088
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis OMIM:118800
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Lower limb spasticity, Inability to walk, Cerebral atrophy, Seizure, Upper li... OMIM:618468
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus ORPHA:36899
Myasthenic Syndrome, Congenital, 18
Fatigable weakness OMIM:616330
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Dystonia 32
Torticollis, Laryngeal dystonia, Limb dystonia OMIM:619637
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Hypoto... OMIM:616127
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizu... OMIM:301020
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal a... OMIM:613728
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus... OMIM:125370
Pontocerebellar Hypoplasia, Type 2D
Appendicular spasticity, Cerebellar atrophy, Clonus, Chorea, Spastic tetraplegia, Cerebral atroph... OMIM:613811
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... OMIM:302500
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Seizure, Ataxia OMIM:613402
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Spastic tetraplegia, C... OMIM:618730
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurre... OMIM:300423
Myasthenic Syndrome, Congenital, 13
Fatigable weakness OMIM:614750
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Neuronal loss in centra... OMIM:143100
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Seizure, Ataxia, Apraxia ORPHA:85338
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Babinski sign, Unsteady gait, Spastic paraplegia, Tip-toe gait, Dystonia OMIM:615030
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rig... ORPHA:98759
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... OMIM:128230
Developmental And Epileptic Encephalopathy 7
Spastic tetraparesis, EEG with burst suppression, Hypotonia, Seizure, Dystonia OMIM:613720
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Dystonia, Difficulty walking, Sensory ataxia OMIM:619661
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Unsteady gait, Impaired distal vibration sens... OMIM:617633
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... OMIM:605259
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
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
Mast Syndrome
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... OMIM:248900
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Involuntary movements, Chorea, Athetosis, Seizure, Dystonia, Focal sensory seizure ORPHA:98809
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Segawa Syndrome, Autosomal Recessive
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... OMIM:605407
Spinocerebellar Ataxia Type 43
Unsteady gait, Limb ataxia, Distal sensory impairment, Gait ataxia, Progressive cerebellar ataxia... ORPHA:497764
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramid... OMIM:607317
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:300425
Infantile Convulsions And Choreoathetosis
Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Seizure, Complex febrile sei... ORPHA:31709
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... OMIM:607565
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... OMIM:616204
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Chorea, Benign Hereditary
Chorea, Frequent falls, Gait disturbance OMIM:118700
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Babinski sign, Abnormal cerebellar cortex morphology, Distal sensory imp... ORPHA:101111
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Seizure, EEG abnormality, Myoclonus, Difficulty walking, Dystonia, Spa... OMIM:617829
Spastic Paraplegia 87, Autosomal Recessive
Lower limb spasticity, Babinski sign, Upper limb spasticity, Dystonia, Spastic gait OMIM:619966
Pontocerebellar Hypoplasia, Type 2C
Chorea, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia, Dystonia OMIM:612390
Choreoathetosis, Familial Inverted
Rigidity, Abnormal pyramidal sign, Seizure, Gait disturbance, Progressive choreoathetosis OMIM:118750
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, EEG abnormality, Hypertonia, Olivopontocerebellar atrophy, Cerebral cortical atrophy ORPHA:2732
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Broad-based gait, Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis, Cerebe... OMIM:224050
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Generalized-onset seizure, Infantile spasms, Hypoplasia of the pons, Spastic tetraplegia, Myoclon... OMIM:618677
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy,... ORPHA:263516
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Involuntary movements, Aggressive behavior, EEG abnormality, Stat... OMIM:617171
Spinocerebellar Ataxia 27B, Late-Onset
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Maple Syrup Urine Disease
Seizure, Ataxia, Hemiplegia/hemiparesis ORPHA:511
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal... OMIM:619806
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus OMIM:159900
Striatonigral Degeneration, Childhood-Onset
Unsteady gait, Hypotonia, Ankle clonus, Steppage gait, Hypertonia, Dystonia, Loss of ambulation, ... OMIM:617054
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,... OMIM:619028
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Cerebellar atrophy, Seizure OMIM:615596
Sodium-Dependent Multivitamin Transporter Deficiency
Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons, Cerebral atrophy, Seizure, Spasticity OMIM:618973
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Cerebe... ORPHA:314603
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Increased neuronal autofluorescent lipopigment, Focal-ons... OMIM:204300
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com... OMIM:619338
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Cerebellar atrophy, Seizure, Slurred speech, Gait ataxia OMIM:619323
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Episodic hemiplegia, Episodic quadriplegia, Dystonia OMIM:104290
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Cerebellar atrophy, Ataxia, Parkinsonism, Babinski ... OMIM:617225
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Axial hypotonia, Ataxia, Focal motor status epilepticus, Focal-onset seizure, Chorea, Poor coordi... OMIM:619150
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... OMIM:617711
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Glycine Encephalopathy 2
Seizure, Respiratory failure, EEG with burst suppression OMIM:620398
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Seizure, Status epilepticus, Dystoni... OMIM:614820
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress... OMIM:612020
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, A... OMIM:617862
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Impaired distal proprioception, Cerebra... OMIM:607250
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, General... ORPHA:71517
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Impair... OMIM:605361
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Axial hypotonia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Hypot... OMIM:616139
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria,... OMIM:617916
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... OMIM:607346
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... ORPHA:210571
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Hypotonia, M... OMIM:617389
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... ORPHA:53583
Autism
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:607373
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Ataxia, Gait disturbance ORPHA:2274
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, Hypotonia, Tongue fascicul... OMIM:618276
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Dysesthesia, Fo... ORPHA:1945
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Tremor, Focal-onset... ORPHA:330050
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Truncal ataxia, A... OMIM:608636
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Parkinsonism-Dystonia 1, Infantile-Onset
Axial hypotonia, Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal py... OMIM:613135
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... ORPHA:208513
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Diaminopentanuria
Neurodegeneration, Seizure, Spasticity, Ataxia OMIM:222350
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Cerebral degeneration, Ataxia OMIM:260970
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Infantile axial hypotonia, Parkinsonism, Tremor, Babinski sign, Scissor gait,... ORPHA:521406
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls OMIM:619647
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... OMIM:610185
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... ORPHA:94124
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Generalized-onset seizure, Inability to walk, Babinski sign, Spastic tetraplegia, Cerebral atroph... OMIM:616657
Spermatogenic Failure 17
Male infertility OMIM:617214
Spastic Ataxia 1, Autosomal Dominant
Spastic ataxia, Spastic paraplegia, Gait disturbance, Dystonia OMIM:108600
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Seizure, Cerebellar vermis atrophy OMIM:618501
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... OMIM:236792
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Babinski sign, Cogwheel rigidity, Hypertonia, Dystonia, Spastic gait OMIM:618284
Epilepsy, Familial Temporal Lobe, 4
Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features OMIM:611631
Developmental And Epileptic Encephalopathy 69
Axial hypotonia, Inability to walk, Spastic tetraplegia, Hypsarrhythmia, EEG abnormality, Hyperki... OMIM:618285
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Axial hypotonia, Focal-onset seizure, Chorea, Inability to walk, EEG abnormality, Convulsive stat... OMIM:618760
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... ORPHA:101109
X-Linked Progressive Cerebellar Ataxia
Unsteady gait, Babinski sign, Limb ataxia, Dysmetria, Spastic dysarthria, Progressive cerebellar ... ORPHA:1175
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:352403
Dysequilibrium Syndrome
Seizure, Cerebral palsy, Ataxia, Gait disturbance ORPHA:1766
3-Methylglutaconic Aciduria Type 1
Spastic tetraparesis, Seizure, Progressive cerebellar ataxia, Dystonia, Failure to thrive ORPHA:67046
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, D... OMIM:614487
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance ORPHA:228169
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Ataxia, Spastic tetraplegia, Seizure, Spasticity OMIM:617207
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, Gait ataxia, Clumsiness, Nonpr... ORPHA:453521
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
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Fatigable weakness OMIM:254190
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait OMIM:618387
Camos Syndrome
Ataxia, Spasticity, Seizure, Brain atrophy, Aplasia/Hypoplasia of the cerebellum, Progressive ext... ORPHA:83472
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Axial hypotonia, Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramidal motor functi... OMIM:615159
Leukodystrophy, Hypomyelinating, 14
Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Dystonia, Spasticity OMIM:617899
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Gordon Holmes Syndrome
Cerebellar atrophy, Chorea, Ataxia, Cerebral atrophy OMIM:212840
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Tremor, Chorea, Babinsk... OMIM:618093
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Axial hypotonia, Parkinsonism, Oculogyric crisis, Bradykinesia, Hypertonia, Gen... OMIM:617384
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Epileptic spasm, Ataxia, Atrophy/Degeneration affecting the brainstem, Spasti... OMIM:619971
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... OMIM:204500
Developmental And Epileptic Encephalopathy 98
Cerebellar atrophy, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ons... OMIM:619605
Spinocerebellar Ataxia Type 11
Abnormal pyramidal sign, Progressive cerebellar ataxia, Gait imbalance, Difficulty walking, Dystonia ORPHA:98767
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... OMIM:601068
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic status epilepticus,... OMIM:619913
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Epileptic spasm, Seizure OMIM:619561
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Cerebellar atrophy, Seizure, Ataxia OMIM:618879
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par... ORPHA:139480
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Parkinsonism, Rigidity, C... OMIM:607136
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... OMIM:254210
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, D... ORPHA:401820
Epilepsy, Nocturnal Frontal Lobe, 4
Nocturnal seizures, Dystonia OMIM:610353
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Increased neuronal autofluorescent lipopig... ORPHA:79263
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener... OMIM:619616
Cln5 Disease
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Abnormal central motor function, Tremor, F... ORPHA:228360
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Unsteady gait, G... ORPHA:485350
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
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Tremor, Dyspnea,... ORPHA:90117
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, ... OMIM:213200
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Ataxia, Cerebral cortical atrophy, Difficulty walking OMIM:619425
Episodic Ataxia, Type 9
Cerebellar edema, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status ... OMIM:618924
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking OMIM:613608
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:615006
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizur... ORPHA:248111
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic se... OMIM:618917
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia, Respiratory insuffi... ORPHA:640
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Seizure, Hypertonia, Stat... ORPHA:71277
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:617145
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... ORPHA:98772
Spastic Paraplegia 85, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Torticollis, Cerebellar atrophy, Impaired te... OMIM:619686
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Seizur... OMIM:612016
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor ORPHA:86814
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Atonic seizure OMIM:611092
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chor... OMIM:617493
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Incoordination, Ataxia, Limb ... OMIM:600224
Developmental And Epileptic Encephalopathy 17
Inability to walk, Chorea, EEG with burst suppression, Focal tonic seizure, Hypsarrhythmia, Athet... OMIM:615473
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic... ORPHA:352582
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Seizure, EEG abnormality, Myoclon... OMIM:606777
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, I... OMIM:616645
Hemidystonia-Hemiatrophy Syndrome
Limb dystonia, Babinski sign, Abnormal pyramidal sign, Hemiparesis, Seizure, Dystonia ORPHA:306741
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Gait disturbance, Aplasia/Hypoplasia of the cereb... ORPHA:2572
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Gait disturb... OMIM:618418
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebral atrophy, Diffuse cerebellar atrophy, Abnormal pyramidal sign, Hemiparesis, Statu... ORPHA:352596
Spinocerebellar Ataxia Type 10
Cerebellar atrophy, Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Unsteady ga... ORPHA:98761
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Dystonia, Ataxia, Infantile spasms, Spastic tetraplegia, Seizure, Status epilepticus, Tetraparesi... ORPHA:263410
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Hypotonia, Truncal ata... OMIM:617560
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Torticollis, Ataxia, Babinski sign, Hypotonia, Choreoathetosis, Limb dy... OMIM:619054
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking OMIM:619191
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Febrile Seizures, Familial, 11
Hippocampal atrophy, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:614418
Spinocerebellar Ataxia 28
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a... OMIM:610246
Huntington Disease-Like 2
Caudate atrophy, Involuntary movements, Parkinsonism, Chorea, Gait disturbance, Dystonia, Cerebra... ORPHA:98934
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Seizure, Ataxia ORPHA:404493
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, Spasti... ORPHA:313772
Episodic Ataxia Type 6
Cerebellar atrophy, Ataxia, Slurred speech, Seizure, Hemiplegia ORPHA:209967
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Autosomal Spastic Paraplegia Type 72
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles ORPHA:401849
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
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
Spinocerebellar Ataxia 42
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia OMIM:613909
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior, Seizure, Bruxism, Spasticity OMIM:615493
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Seizure, Bradykinesia, Shuf... OMIM:615528
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... OMIM:605809
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Striatonigral Degeneration, Infantile
Choreoathetosis, Spasticity, Dystonia OMIM:271930
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Chorea, Hypotonia, Seizure, Athetosis, Focal impaired awa... ORPHA:382
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impaired vibratory sensation, Lower limb spasticity, Abnormal cerebellar peduncle morphology, Cer... ORPHA:98
Mitochondrial Dna Depletion Syndrome 17
Epilepsia partialis continua, Cerebellar atrophy, Spastic tetraparesis, Chorea, Cerebral atrophy,... OMIM:618567
Ataxia-Tapetoretinal Degeneration Syndrome
Aplasia/Hypoplasia of the cerebellum, Ataxia, Gait disturbance ORPHA:1178
Spinocerebellar Ataxia Type 2
Kinetic tremor, Postural tremor, Parkinsonism, Olivopontocerebellar hypoplasia, Chorea, Cerebella... ORPHA:98756
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Focal... OMIM:617904
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t... ORPHA:93952
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Cerebellar atrophy, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... OMIM:618369
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Progressive cerebellar ataxia ORPHA:276183
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p... OMIM:612319
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Dystonia, Spasticity, ... OMIM:615889
Spastic Ataxia 9, Autosomal Recessive
Axial hypotonia, Ataxia, Impaired distal vibration sensation, Hoffmann sign, Hypotonia, Dysmetria... OMIM:618438
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Inability to walk, Hypotonia, Seizure, EEG abnormality, Dystonia, Spasticity OMIM:617820
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Spastic tetraplegia, Dystonia OMIM:618646
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Head tremor OMIM:619988
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... ORPHA:1170
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Parkinsonism, Cerebellar calcifications, Rigidity, Babinski sign, Limb atax... OMIM:618824
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Degeneration of the striatum, Gait di... OMIM:609161
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Seizure, Status epilepticus, Abnorma... OMIM:239500
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Hypotonia, Obe... OMIM:616756
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy OMIM:619405
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Cerebellar hypoplasia, Myoclonus, Hypoplasia of the pons OMIM:619303
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Hypo... OMIM:617954
Spinocerebellar Ataxia 34
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... OMIM:133190
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:208447
Leukodystrophy, Hypomyelinating, 18
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Babinski sign, Spa... OMIM:618404
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... ORPHA:98764
Developmental And Epileptic Encephalopathy 71
EEG with burst suppression, Cheyne-Stokes respiration, Respiratory insufficiency, Seizure, Respir... OMIM:618328
Spastic Ataxia 3, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,... OMIM:611390
Liang-Wang Syndrome
Cerebellar atrophy, Ataxia, Generalized non-motor (absence) seizure, Cerebral atrophy, Status epi... OMIM:618729
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... ORPHA:454887
Tubulinopathy-Associated Dysgyria
Startle-induced seizure, Ataxia, Cerebellar vermis hypoplasia, Infantile spasms, Hypoplasia of th... ORPHA:467166
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... OMIM:619970
Microlissencephaly
Cerebellar atrophy, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Cerebral c... ORPHA:1083
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Generalized-onset seizure, Slurred speech, Limb ataxia, Dysmetria, Ankle clon... ORPHA:284289
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
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis, Dystonia, Spa... OMIM:615924
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
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... OMIM:617435
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... OMIM:616540
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Seizure, Bruxism, Spasticity ORPHA:356996
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity OMIM:616494
Partington Syndrome
Lower limb spasticity, Infantile spasms, Focal dystonia, Seizure, EEG abnormality, Limb dystonia OMIM:309510
Developmental And Epileptic Encephalopathy 42
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Ataxia, Inability to walk, Unsteady gait, Spastic tetraplegia, Cerebral atrop... ORPHA:1947
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spastic Paraplegia 75, Autosomal Recessive
Cerebellar atrophy, Corpus callosum atrophy, Impaired distal vibration sensation, Abnormal pyrami... OMIM:616680
Dandy-Walker Syndrome
Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Tr... OMIM:220200
Episodic Ataxia, Type 6
Cerebellar atrophy, Slurred speech, Hemiparesis, Seizure, Cerebellar hypoplasia, Truncal ataxia, ... OMIM:612656
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Seizure, Limb ataxia, Gait ataxia ORPHA:404499
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, Sensory ataxia, ... ORPHA:445062
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Distal s... OMIM:603516
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa... OMIM:616281
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Babinski sign, Impaired ... OMIM:614409
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Generalized myoclo... OMIM:616341
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Axial hypotonia, Hypoplasia of the pons, Choreoathetosis, Dystonia, Spasticity OMIM:614249
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure OMIM:613886
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
EEG with focal spikes, Ataxia, Cerebellar hypoplasia, Cerebral atrophy OMIM:616917
Intellectual Developmental Disorder, Autosomal Recessive 57
Generalized-onset seizure, Inability to walk, Focal-onset seizure, Seizure, Hypertonia, Generaliz... OMIM:617188
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:35878
Leukodystrophy, Hypomyelinating, 21
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Athetosis, Tetraparesis, Dystonia OMIM:619310
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Ataxia, Failure to thrive in infancy, Babinski sign, Spastic dipl... OMIM:619065
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia OMIM:616398
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... OMIM:614877
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on... ORPHA:501
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Waddling gait, Cerebellar atrophy, Babinski sign, Cerebral atrophy, Spasticity OMIM:619090
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Broad-based gait, Babinski sign, Abnormal pyramidal sign, Dysmetria, ... ORPHA:363429
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Ataxia, Abnormal pyramidal sign, Dystonia OMIM:619196
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... OMIM:600363
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Axial hypotonia, Oculogyric crisis, Tremor, Hypotonia, Dysd... OMIM:618049
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Impaired vibration sensation in the lower limbs, Babin... OMIM:159550
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Cerebellar atrophy, Inability to walk, Ataxia, Gait ataxia OMIM:617915
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Familial Dyskinesia And Facial Myokymia
Resting tremor, Axial hypotonia, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Hypotonia, Progressive cerebellar ataxia, My... ORPHA:139485
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Hypoplasia of the pons, Inability to walk, Generalized non-motor (absence) seiz... ORPHA:411986
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, G... OMIM:604391
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Spasticity OMIM:613722
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Lower limb spasticity, Ataxia, Clonic seizure, Hypotonia, Truncal ataxia, Gait ataxia, Seizure, G... OMIM:614458
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Foc... OMIM:619854
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... ORPHA:251347
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls... OMIM:203740
Autosomal Recessive Spastic Paraplegia Type 74
Cerebellar atrophy, Babinski sign, Difficulty walking, Progressive spastic paraplegia ORPHA:468661
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Spinocerebellar Ataxia, Autosomal Recessive 33
Dilated fourth ventricle, Broad-based gait, Head titubation, Gait ataxia, Focal impaired awarenes... OMIM:620208
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Epileptic spasm, EEG with focal spike waves, Bilateral tonic-c... ORPHA:1942
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Epileptic spasm, Focal-onset seizure, EEG with burst suppression, M... ORPHA:3006
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7
Focal-onset seizure, Hypotonia, Seizure, Dystonia, Refractory status epilepticus OMIM:620359
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Developmental And Epileptic Encephalopathy 93
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetr... OMIM:618012
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Clonus, Spastic paraplegia, Lower limb hypertonia, Gait disturbance... OMIM:614898
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, I... OMIM:617166
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Intention tremor OMIM:617863
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Athetosis, Cereb... OMIM:614559
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Bilateral tonic-clonic seizure, Rigidity... OMIM:619911
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Seizure, Generalized hypotonia, Dystonia OMIM:616763
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Spastic Paraplegia 7, Autosomal Recessive
Waddling gait, Spastic ataxia, Lower limb spasticity, Cerebellar atrophy, Degeneration of the lat... OMIM:607259
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizu... ORPHA:77299
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Pr... OMIM:210000
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Hypotonia, Cerebellar hypoplasia, Limb dystonia OMIM:620270
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Ataxia, Tremor, Poor coordination, Gait disturbance, Eating-induced se... ORPHA:544254
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Clumsiness, Focal dystonia, Gait... ORPHA:216873
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz... ORPHA:100988
Spinocerebellar Ataxia 6
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... OMIM:183086
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Corpus callosum atrophy, Focal-onset ... ORPHA:168491
Congenital Myasthenic Syndromes With Glycosylation Defect
Fatigable weakness, Abnormal peripheral nervous system synaptic transmission, Favorable response ... ORPHA:353327
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Abnormal pyramidal sign, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Se... OMIM:617964
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... OMIM:616719
Developmental And Epileptic Encephalopathy 14
Clonus, Focal autonomic seizure, Focal motor seizure, Tetraplegia, Status epilepticus, Spasticity... OMIM:614959
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Developmental And Epileptic Encephalopathy 44
Cerebellar atrophy, Infantile spasms, Cerebral atrophy, Seizure, Athetosis, Spasticity OMIM:617132
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Caudate atrophy, Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Partial absence of cerebell... ORPHA:137831
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... OMIM:617600
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Abnormal motor nerve conduction velocity, Diaphragmatic paralysis, Respirat... OMIM:614399
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Epileptic spasm, Inability to walk, Chorea, Cerebral atrophy, Myoclonic seizu... OMIM:614254
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Incoordination, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Seizure, G... ORPHA:309162
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity OMIM:545000
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Stat... ORPHA:529665
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Cerebral atrophy, Dysmetria, Gait ataxia, Seizure ORPHA:320385
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait OMIM:619052
Familial Paroxysmal Ataxia
Torticollis, Ataxia, Dystonia, Hemiplegia, Cerebellar vermis atrophy ORPHA:97
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Spasticity, Intention tremor OMIM:215470
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Tonic seizure, Respiratory insufficiency, Respiratory failure, Hypertonia OMIM:611722
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Hypotonia, Paroxysmal cho... OMIM:500003
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... ORPHA:397946
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Cerebral ... OMIM:613839
Myasthenic Syndrome, Congenital, 23, Presynaptic
Fatigable weakness OMIM:618197
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Clonic seizure, Chorea, Front... ORPHA:79097
Mepan Syndrome
Axial dystonia, Cerebellar atrophy, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Cerebral a... ORPHA:508093
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Ataxia, Head titubation, Dysesthesia, Abnormal pyramidal sign, Cerebral atrop... ORPHA:527497
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Congenital Disorder Of Glycosylation, Type Iii
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Truncal ataxia OMIM:613612
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Cerebellar atrophy, Impaired distal proprioception, Tremor, Abnormal cerebellum m... ORPHA:137898
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Cerebral atrophy OMIM:616521
Developmental And Epileptic Encephalopathy 58
Spastic diplegia, Hypsarrhythmia, Seizure, Status epilepticus, Abnormal repetitive mannerisms OMIM:617830
Autosomal Recessive Spastic Paraplegia Type 46
Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Ataxia, Corpus callosum atrophy, Bab... ORPHA:320391
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dyston... OMIM:612438
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Lower limb spasticity, Bilateral tonic-clonic seizure OMIM:619639
Partington Syndrome
Lower limb spasticity, EEG abnormality, Seizure, Gait disturbance, Limb dystonia ORPHA:94083
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Sei... OMIM:612736
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
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Axial hypotonia, Tremor, Myoclonus, Dystonia, Failure to thrive OMIM:619651
Mitochondrial Complex I Deficiency, Nuclear Type 17
Generalized dystonia, Ataxia, Rigidity, Focal motor seizure, Hypotonia, Seizure, Gait disturbance... OMIM:618239
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis ORPHA:132
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Cerebellar atrophy, Epileptic spasm, Inability to walk, Seizure, Spasticity OMIM:617086
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Frequent falls OMIM:615217
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Dysmetria OMIM:618384
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebellar atrophy, Chorea, Spastic tetraplegia, Hypotonia, Athetosis, Cerebellar hypoplasia, Dys... OMIM:619922
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Harel-Yoon Syndrome
Cerebellar atrophy, Ataxia, Inability to walk, Generalized non-motor (absence) seizure, Spasticity OMIM:617183
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
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Abnormal cerebellum morphology, P... ORPHA:280234
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Cogwheel rigi... ORPHA:225154
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spastic paraparesis, Apraxia, Olivop... OMIM:615157
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Cerebral atrophy, Tip-toe gait, Progres... ORPHA:496689
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor ORPHA:98771
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Rigidity, Hypoplasia of the pons, Unste... ORPHA:98760
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransfera... OMIM:271245
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Cerebral atrophy, Myoclonic seizure,... OMIM:226750
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor func... OMIM:610743
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,... OMIM:615491
Rabies
Cerebral palsy, Anorexia, Seizure, Paresthesia, Attention deficit hyperactivity disorder, Vocal c... ORPHA:770
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:619428
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Prolonged miniature endplate currents OMIM:603034
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, D... OMIM:609195
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Generaliz... OMIM:618224
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Hereditary Continuous Muscle Fiber Activity
Seizure, Slurred speech, Ataxia, Spastic gait ORPHA:972
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Infantile Dystonia-Parkinsonism
Cerebral palsy, Axial hypotonia, Parkinsonism, Oculogyric crisis, Chorea, Abnormal pyramidal sign... ORPHA:238455
3-Methylglutaconic Aciduria, Type Viia
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure,... OMIM:619835
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigidity, Cerebral at... OMIM:610127
Mitochondrial Myopathy With Lactic Acidosis
Hypotonia, Dysmetria, Seizure, Tip-toe gait, Focal impaired awareness seizure, Dystonia, Spasticity OMIM:251950
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Infantile spasms OMIM:278780
Rasmussen Subacute Encephalitis
EEG with focal spikes, Interictal epileptiform activity, Bilateral tonic-clonic seizure with gene... ORPHA:1929
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:183090
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypotonia, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia OMIM:261630
Developmental And Epileptic Encephalopathy 16
Severe muscular hypotonia, Clonic seizure, Hypotonia, Hemiparesis, Status epilepticus, Myoclonus,... OMIM:615338
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia,... OMIM:618598
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Gait ataxia, Hemiparesis, Myocl... OMIM:123400
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Tetraplegia, Cerebral atrophy, Choreoathetosi... OMIM:616034
Huntington Disease-Like 1
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsines... ORPHA:157941
Atypical Rett Syndrome
Neonatal hypotonia, Involuntary movements, Infantile spasms, Impaired pain sensation, Tremor, Ina... ORPHA:3095
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Hypotonia, Myo... OMIM:618497
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:300495
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Seizure, Ataxia, Dystonia ORPHA:1171
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Hypotonia,... OMIM:606703
Congenital Disorder Of Glycosylation, Type Iin
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Seizure, Cerebellar vermis atrophy OMIM:616721
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Developmental And Epileptic Encephalopathy 1
Axial hypotonia, Dystonia, Infantile spasms, Tonic seizure, Spastic tetraparesis, Focal-onset sei... OMIM:308350
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure, Ataxia, Dysphagia OMIM:618637
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, Seizure, EEG abnormality, Dystonia OMIM:612126
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Chorea, Seizure, EEG abnormality, Focal impaired awareness seizur... OMIM:613970
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Seizure, Spas... ORPHA:329284
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Di... OMIM:159950
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Rigidity, Inability to walk, Seizure, Athetosis, Gait disturbance, Myoclonus,... OMIM:618241
Pontocerebellar Hypoplasia, Type 4
Seizure, Respiratory failure, Hypertonia, Myoclonus, Dysphagia, Spasticity OMIM:225753
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Gait ataxia, Seizure, Gait imbalance, Cerebel... ORPHA:488635
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Inability to walk, Chorea, Abnormal pyramidal sign, Gait ataxia, Seizure... ORPHA:500180
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seizure, ... OMIM:620166
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... ORPHA:98820
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Hypotonia, Opisthotonus, Choreoathetosis, Se... ORPHA:13
Brain Dopamine-Serotonin Vesicular Transport Disease
Axial hypotonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor,... ORPHA:352649
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculomotor aprax... OMIM:208920
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hypot... OMIM:619301
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebellar atrophy, Progressive external ophthalmoplegia, Broad-based gait, Ataxia, Clonus, Ophth... OMIM:616479
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Postural tremor, Chorea, Loss of Purkinje cells in the cerebellar vermis, Imp... ORPHA:98755
Lissencephaly 3
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia, Seizur... OMIM:611603
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... OMIM:128100
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Dystonia 21
Blepharospasm, Torticollis, Laryngeal dystonia OMIM:614588
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Hemi... ORPHA:101071
X-Linked Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospa... ORPHA:53351
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Chorea, Generalized non-motor (absence) seizure, Focal impaired awareness hem... OMIM:620149
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Spastic pa... OMIM:615643
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Tubular Aggregate Myopathy
Fatiguable weakness of proximal limb muscles, Fatigable weakness ORPHA:2593
Autosomal Recessive Spastic Paraplegia Type 26
Lower limb spasticity, Abnormal cerebellum morphology, Babinski sign, Pseudobulbar paralysis, Gai... ORPHA:101006
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia OMIM:614306
Hypermanganesemia With Dystonia 2
Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Ce... OMIM:617013
Fatty Acyl-Coa Reductase 1 Deficiency
Cerebellar atrophy, Spastic tetraparesis, Inability to walk, Seizure, Dandy-Walker malformation ORPHA:438178
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Seizure, Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Leukodystrophy, Hypomyelinating, 25
Gait ataxia, Seizure, Hypotonia, Dystonia OMIM:620243
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Upper limb hypert... OMIM:613672
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Intellectual Developmental Disorder, X-Linked 111
Cerebral palsy, Unsteady gait, Seizure, Dystonia, Spasticity OMIM:301107
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Somatic sensory dysfunction, Gait ataxia, Progressive cerebellar ataxia, Paresthesia, Spasticity,... ORPHA:466794
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Abnormal pyramidal sign, Tetraplegia, Cerebral atrophy, Seizure OMIM:300475
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brai... OMIM:616267
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Axonal degeneration, Dysm... OMIM:302800
Pontocerebellar Hypoplasia, Type 6
Appendicular spasticity, Lower limb spasticity, Cerebellar atrophy, Generalized-onset seizure, Ce... OMIM:611523
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Pelizaeus-Merzbacher Disease, Classic Form
Axial hypotonia, Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Abnormal pyr... ORPHA:280219
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Seizure, Unsteady gait, Ataxia OMIM:300861
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Generalized-onset seizure, Cerebellar vermis hypoplasia, Infantile spasms, Hemiparesis, Seizure, ... OMIM:610031
Spinocerebellar Ataxia 36
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ... OMIM:614153
Huntington Disease-Like 3
Caudate atrophy, Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extrapyra... OMIM:604802
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Cerebral atrophy, Dystonia OMIM:610181
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... OMIM:617270
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Leukoencephalopathy, Cystic, Without Megalencephaly
Ataxia, Seizure, Athetosis, Dystonia, Spasticity OMIM:612951
Hereditary Methemoglobinemia
Cerebellar atrophy, Spastic tetraplegia, Temporal cortical atrophy, Seizure, Athetosis, Hypertoni... ORPHA:621
Hyperekplexia 4
Hypsarrhythmia, Seizure, Respiratory failure, Hypertonia, Myoclonus OMIM:618011
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Seizure, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal cerebe... ORPHA:33445
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Difficulty walking, Febrile... ORPHA:477673
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, Focal clonic seizure, Episodic ata... ORPHA:140927
Spastic Paraplegia 47, Autosomal Recessive
Waddling gait, Overweight, Inability to walk, Spastic paraplegia, Babinski sign, Seizure, Hyperto... OMIM:614066
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Inability to walk, Seizure, Cerebellar atrophy, Appendicular spasticity OMIM:618324
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Dystonia, Axial hypotonia, Parkinsonism, Spastic tetraparesis, Generalized dystonia, Inability to... OMIM:619653
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebral atrophy, Multifocal seizures, Involuntary movements, Upper limb postural tremor,... ORPHA:477774
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... ORPHA:247815
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Benign Familial Neonatal Epilepsy
Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure... ORPHA:1949
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Seizure, Ataxia, Gait disturbance ORPHA:85317
Hyperphenylalaninemia, Bh4-Deficient, A
Axial hypotonia, Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetos... OMIM:261640
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... ORPHA:268947
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Oculomotor apraxia, Unsteady gait, Dysmetria, Generalized hyp... OMIM:614867
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait disturbance, Dystonia... ORPHA:542310
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Clonus, Impaired proprioception, Upper limb hypertonia, Limb dystonia ORPHA:319199
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Decreased miniature endplate potentials OMIM:608930
Spinocerebellar Ataxia 25
Cerebellar atrophy, Ataxia, Impaired pain sensation, Babinski sign, Abolished vibration sense, Oc... OMIM:608703
Spinocerebellar Ataxia 21
Cerebellar atrophy, Postural tremor, Ataxia, Parkinsonism, Akinesia, Limb ataxia, Gait ataxia, Co... OMIM:607454
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations ORPHA:85162
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Generalized hypotonia, Dystonia, Difficulty walk... ORPHA:306669
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... OMIM:607745
Kaya-Barakat-Masson Syndrome
Cerebellar atrophy, Axial hypotonia, Spastic tetraplegia, Cerebral atrophy, Generalized hypotonia... OMIM:619125
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spasticity, Seizure, Palatal tremor ORPHA:363717
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia OMIM:613869
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... ORPHA:726
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Spastic tetraparesis, Cerebellar vermis atrophy, Cerebral atrophy, Seizure, Spasticity, Dandy-Wal... OMIM:616154
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Torticollis, Head tremor, Dystonia, Intention tremor OMIM:613724
Encephalopathy Due To Prosaposin Deficiency
Hypotonia, Bilateral tonic-clonic seizure, Myoclonus, Dystonia ORPHA:139406
Autosomal Recessive Spastic Paraplegia Type 78
Cerebellar atrophy, Babinski sign, Abnormal pyramidal sign, Progressive spastic quadriplegia, Pro... ORPHA:513436
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Inabi... OMIM:617976
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Gait disturbance, Aplasia/Hypoplasia of the cerebellum ORPHA:2585
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Axial hypotonia, Dystonia, Ataxia, Rigidity, Head titu... OMIM:608804
Combined Oxidative Phosphorylation Deficiency 35
Spasticity, EEG abnormality, Generalized hypotonia, Dystonia, Generalized myoclonic seizure, Febr... OMIM:617873
Aminoacylase 1 Deficiency
Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Cerebral cortical ... OMIM:609924
Joubert Syndrome 25
Oculomotor apraxia, Ataxia, Cerebellar hypoplasia OMIM:616781
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... OMIM:616710
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis, Limb dysmetria ORPHA:324262
Leukodystrophy, Hypomyelinating, 20
Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia, Dystonia OMIM:619071
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Cerebellar atrophy, Facial hypotonia, Babinski sign, Hypotonia, Spastic dysarthria... ORPHA:280763
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... OMIM:277460
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Atrophy of th... ORPHA:395
Perrault Syndrome 1
Cerebellar atrophy, Ataxia, Spastic diplegia, Gait ataxia, Intention tremor OMIM:233400
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Seizure, Ataxia OMIM:618951
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hypot... OMIM:619302
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ... OMIM:602481
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Multifocal seizures, Axial hypotonia, Ataxia, Involuntary movements, Choreoathetosis, Status epil... OMIM:615905
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Neonatal hypotonia, Generalized dystonia, Ataxia, Hypotonia, Choreoathetosis... OMIM:245348
Osteomesopyknosis
Infertility OMIM:166450
Developmental And Epileptic Encephalopathy 107
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure OMIM:620033
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Axial hypotonia, Bilateral tonic-clonic seizure, Ataxia, Un... ORPHA:464282
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Sei... OMIM:300894
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Positive Romberg sign, Cerebellar vermis at... OMIM:614575
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Spastic Paraplegia Type 7
Cerebellar atrophy, Somatic sensory dysfunction, Babinski sign, Abnormal pyramidal sign, Impaired... ORPHA:99013
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... ORPHA:240094
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Clonic seizure, Spastic tetraplegia, Seizure, Self-injurious behavior, Hypertonia, Abnormal repet... OMIM:615282
Intellectual Developmental Disorder, X-Linked 30
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Clumsiness OMIM:300558
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Cerebellar atrophy, Broad-based gait, Ataxia, Dysmetria OMIM:618098
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... OMIM:300623
Developmental And Epileptic Encephalopathy 5
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Seizure, Atrophy/Degeneration affectin... OMIM:613477
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Hypotonia, Dysmetria, Truncal ataxia, Seizure, Myoclonus, Dystonia, Fail... OMIM:250620
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Status epilepticus, Spasticity, Intent... OMIM:614307
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Ataxia, Episodic generalized hypotonia, Hypotonia, Dysmetria, Gait ataxia, Trunca... OMIM:601338
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Seizu... ORPHA:363654
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Postural tremor, Ataxia, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ... OMIM:607694
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, EEG abnormality, Hyperkinetic ... OMIM:618218
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Intention tremor OMIM:620221
Porphyria, Acute Hepatic
Respiratory paralysis, Paresthesia, Paralysis OMIM:612740
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... OMIM:137440
Spastic Paraplegia 70, Autosomal Recessive
Ankle clonus, Somatic sensory dysfunction, Fasciculations, Spasticity OMIM:620323
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Spinocerebellar Ataxia 47
Ataxia, Chorea, Dysmetria, Seizure, Spasticity, Cerebellar vermis atrophy OMIM:617931
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Ataxia, Spastic paraplegia, Poor gross motor coordination, Spastic tetraplegia, Unsteady gait, Po... OMIM:245349
Lissencephaly Due To Lis1 Mutation
Cerebellar vermis hypoplasia, EEG with changes in voltage, Infantile spasms, Focal motor seizure,... ORPHA:95232
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Leukodystrophy, Hypomyelinating, 17
Inability to walk, Seizure, Cerebellar atrophy, Cerebral atrophy OMIM:618006
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... OMIM:113610
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Distal sensory impairment, Spasticity, Inte... OMIM:612674
N-Acetylaspartate Deficiency
Seizure, Abnormal repetitive mannerisms, Self-mutilation, Truncal ataxia OMIM:614063
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Axial hypotonia, Bilateral tonic-clonic seizure with generalized onset, Cerebral palsy, Chorea, B... OMIM:618451
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spastic tetraplegia, Choreoathetosis, Seizure, Generalized hypotonia, Dystonia, Spasticity, Failu... OMIM:618238
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Axial hypotonia, Ataxia, Hypotonia, Spasticity, Falls, Generalized hypotonia, Dystonia, Febrile s... OMIM:619224
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... ORPHA:254881
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Hypotonia, Clumsiness, Blepharosp... OMIM:617282
Joubert Syndrome 24
Ataxia, Dysmetria, Gait disturbance, Cerebellar hypoplasia, Spasticity OMIM:616654
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance, Fascicu... OMIM:608030
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Inability to walk, Tremor OMIM:616269
Huntington Disease-Like 2
Rigidity, Chorea, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor OMIM:606438
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, T... ORPHA:98768
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Ankle clonus, Hemiparesis, Respiratory failure, Tongue fasciculations, Tetraparesis OMIM:600561
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Spastic Paraplegia 86, Autosomal Recessive
Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis, Febrile seizure (w... OMIM:619735
Developmental And Epileptic Encephalopathy 65
Cerebellar atrophy, Seizure, Spasticity, Cerebral atrophy OMIM:618008
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status... ORPHA:225147
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Ataxia, Loss of Purkinje cells in the cerebellar verm... OMIM:270550
Huntington Disease-Like 3
Broad-based gait, Extrapyramidal muscular rigidity, Caudate atrophy, Chorea, Abnormal pyramidal s... ORPHA:157946
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Tongue fasciculations, Spastic tetraparesis OMIM:616081
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Axial hypotonia, Cerebral palsy, Oculogyric crisis, Small for gestational age, Tremor, Rigidity, ... ORPHA:70594
Raynaud-Claes Syndrome
Lower limb spasticity, Hypotonia, Seizure, Progressive cerebellar ataxia, Focal impaired awarenes... OMIM:300114
Peho-Like Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:617507
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia OMIM:193003
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Seizure, Dysdiadochokinesis, Hypertonia, My... OMIM:618356
Spinal Muscular Atrophy, Type I
Respiratory failure, Tongue fasciculations, Respiratory insufficiency OMIM:253300
Leukodystrophy, Hypomyelinating, 15
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Athetosis, Loss o... OMIM:617951
Leukodystrophy, Hypomyelinating, 9
Lower limb spasticity, Axial hypotonia, Ataxia, Babinski sign, Dysmetria, Cerebral atrophy, Pseud... OMIM:616140
Spinocerebellar Ataxia Type 36
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Limb myoclonus, Limb atax... ORPHA:276198
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Inability to walk, EEG abnor... ORPHA:457205
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Paralysis, Hypotonia, Cerebral atrophy, Generalized hypotonia OMIM:616286
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Seizure, Dysdiadochokinesis, Progressive gait atax... ORPHA:289494
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Axial hypotonia, Facial hypotonia, Ataxia, Parkinsonism, Tremor, Spastic parapleg... OMIM:300055
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Spastic paraplegia, B... OMIM:606693
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... OMIM:256600
3-Methylglutaconic Aciduria, Type I
Ataxia, Spastic tetraplegia, Spasticity, Athetosis, Dystonia, Febrile seizure (within the age ran... OMIM:250950
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to walk, Hypoton... ORPHA:561854
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic para... ORPHA:329308
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Sei... ORPHA:363400
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Babinski sign, D... ORPHA:88644
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Babinski sign, Cerebral atrophy, Sensory ataxia, Gait ataxia, Atrophy/Degener... OMIM:616192
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Machado-Joseph Disease
Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:109150
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... OMIM:612164
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Hypoplasia of the pons, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, Hy... OMIM:607596
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... OMIM:607876
Developmental And Epileptic Encephalopathy 51
Cerebellar atrophy, Epileptic spasm, Corpus callosum atrophy, Focal-onset seizure, Inability to w... OMIM:617339
Intellectual Developmental Disorder, X-Linked 104
Tremor, Seizure, Spasticity, Ataxia OMIM:300983
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Seizure, Broad-based gait, Spastic tetraparesis OMIM:619470
Episodic Ataxia, Type 2
Progressive cerebellar ataxia, Paresthesia, Dystonia, Episodic ataxia, Cerebellar vermis atrophy OMIM:108500
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Hypotonia, Dysmetria, Gait... OMIM:616505
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Paralysis OMIM:300857
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Ataxia, Hypotonia, Seizure, Myoclonus, Dystonia, Spasticity OMIM:620094
Spinocerebellar Ataxia Type 6
Incoordination, Babinski sign, Unsteady gait, Gait ataxia, Blepharospasm, Progressive cerebellar ... ORPHA:98758
Developmental And Epileptic Encephalopathy 48
Cerebellar atrophy, Cerebral atrophy, Seizure, Status epilepticus, Limb hypertonia OMIM:617276
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Ataxia, Cerebral atrophy, Distal sensory impairment, Bradykinesia, Cogwheel r... ORPHA:254886
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, EEG with burst suppression, Myoclonic seizure, Seizure, Res... ORPHA:168486
Mitochondrial Complex I Deficiency, Nuclear Type 23
Hypotonia, Generalized hypotonia, Dystonia OMIM:618244
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Pontocerebellar Hypoplasia, Type 2B
Cerebellar atrophy, Cerebellar vermis hypoplasia, Clonus, Tonic seizure, Chorea, Babinski sign, C... OMIM:612389
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... OMIM:309548
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Rigidity, Respiratory failure, Myoclonus, Aspiration pneumonia OMIM:619057
Cdkl5-Deficiency Disorder
Infantile spasms, Impaired pain sensation, Focal-onset seizure, Abnormal respiratory system physi... ORPHA:505652
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Parkinsonis... ORPHA:300605
Alzheimer Disease 3
Spastic tetraparesis, Babinski sign, Seizure, Gait disturbance, Myoclonus, Abnormality of extrapy... OMIM:607822
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... OMIM:618877
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, EEG with abnormally slow frequencies, Chorea, Multifocal epileptiform discharges, Seizure... ORPHA:70472
Huppke-Brendel Syndrome
Inability to walk, Seizure, Cerebellar atrophy, Cerebral atrophy OMIM:614482
Prune1-Related Neurological Syndrome
Cerebellar atrophy, Epileptic spasm, Clonus, Spastic tetraparesis, Inability to walk, Cerebral at... ORPHA:544469
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... ORPHA:101077
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Chorea, Cogwheel rigidity, ... OMIM:619725
Amyotrophic Lateral Sclerosis 2, Juvenile
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Ataxia, Upper... OMIM:205100
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Ataxia, Impaired pain sensation, Abnormal cerebellum morphology, Ab... ORPHA:1532
Gillespie Syndrome
Cerebellar atrophy, Postural tremor, Ataxia, Slurred speech, Cerebellar hypoplasia OMIM:206700
Tremor-Ataxia-Central Hypomyelination Syndrome
Postural tremor, Ataxia, Impaired distal proprioception, Babinski sign, Impaired vibration sensat... ORPHA:447896
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Incoordination, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, Abno... OMIM:616688
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Clumsiness, Stereotypical body rocking, Agitatio... ORPHA:100973
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Difficulty walking, Dystonia OMIM:616684
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Dystonia, Limb hypertonia OMIM:618247
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Seizure, Tip-toe gait, Gait disturbance, Abnormal posturing ORPHA:216866
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Infantile spasms, Tonic seizure, Focal-onset seizure, Seizure, Spasticity, Abnormal repetitive ma... OMIM:617393
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Seizure, Gait disturbance OMIM:603472
Kcnq2-Related Epileptic Encephalopathy
Epileptic spasm, Inability to walk, EEG with burst suppression, Poor gross motor coordination, Hy... ORPHA:439218
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to ... ORPHA:845
Cln3 Disease
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Ataxia, Foc... ORPHA:228346
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ataxia, Choreoathetosis, Seizure, Generalized hypotonia, Dystonia, Frequent falls OMIM:618416
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Dystonia, Spasticity, Upper motor neuron dysfunction OMIM:500001
Peroxisome Biogenesis Disorder 6B
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Impaired distal vibration sensation, Un... OMIM:614871
Hyperprolinemia Type 2
Early onset absence seizures, Generalized-onset seizure, Dysesthesia, Unsteady gait, Distal senso... ORPHA:79101
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Spastic tetraplegia, Generalized hypotonia, Dystonia OMIM:618237
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... ORPHA:254343
Primary Dystonia, Dyt4 Type
Torticollis, Generalized dystonia, Involuntary movements, Upper limb postural tremor, Blepharospa... ORPHA:98805
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal sensory impairment, Paralysis OMIM:605285
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Abnormal cerebellum... OMIM:618056
16P11.2P12.2 Microduplication Syndrome
Seizure, Dystonia ORPHA:261204
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance ORPHA:99014
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Generalized-onset seizure ORPHA:459074
Spastic Paraplegia 20, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Abnormal cerebellum morphology, Babinski sign, Spastic... OMIM:275900
Hyperphenylalaninemia, Bh4-Deficient, B
Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Ge... OMIM:233910
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Pontocerebell... OMIM:618060
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Alexander Disease
Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Abnormal dentate nucleus morphology,... OMIM:203450
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
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
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Christianson Syndrome
Cerebellar atrophy, Generalized-onset seizure, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of... ORPHA:85278
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U... ORPHA:458803
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus OMIM:619780
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Generalized non-motor ... OMIM:615398
Baralle-Macken Syndrome
Focal-onset seizure, Inability to walk, Obesity, Dystonia, Neonatal hypotonia, Spasticity OMIM:619255
Galloway-Mowat Syndrome 2, X-Linked
Cerebellar atrophy, Dysmetria, Cerebral atrophy, Seizure, Spasticity OMIM:301006
Combined Saposin Deficiency
Babinski sign, Myoclonus, Fasciculations, Hyperkinetic movements OMIM:611721
Mitochondrial Complex I Deficiency, Nuclear Type 10
Ataxia, Central hypoventilation, Apnea, Dysmetria, Seizure, Respiratory failure, Dysphagia OMIM:618233
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Seizure, EEG abnormality, Self-injurious behavior, Bruxism, Spasticity, Ab... OMIM:618718
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... ORPHA:64753
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Adult Krabbe Disease
Hoffmann sign, Upper limb muscle weakness, Lower limb muscle weakness, Abnormal medulla oblongata... ORPHA:206448
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Cerebral atrophy, Myoclonic seizure OMIM:619690
Huntington Disease
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br... ORPHA:399
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypoplasia of the pons, Impaired proprioception, Hand tremor, Head tremor, Ophthalmoplegia, Gait ... ORPHA:412057
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Axial hypotonia, Rigidity, Truncal titubation, Chorea, Inability to walk, Abnormal pyramidal sign... OMIM:607483
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Lower limb spasticity, Ataxia, Focal-onset seizure, Dysmetria, Lower limb hypertonia, Pseudobulba... ORPHA:438114
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal-onset seizure, Babinski sign, Cerebral atrophy, Ankle clonu... OMIM:301058
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok... OMIM:614381
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Machado-Joseph Disease Type 1
Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal... ORPHA:276241
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Ataxia, Tonic seizure, Rigidity, Inability to walk, Ch... OMIM:300260
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Spastic paraparesis ORPHA:391417
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Fasciculations ORPHA:65684
Spinocerebellar Ataxia 1
Impaired vibratory sensation, Dilated fourth ventricle, Impaired pain sensation, Chorea, Babinski... OMIM:164400
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Tip-toe gait, Difficulty walking, Frequent falls, Cerebellar cyst ORPHA:370980
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Seizure, Limb hyp... OMIM:612936
Periventricular Nodular Heterotopia 7
Seizure, Ataxia, Generalized non-motor (absence) seizure, Infantile spasms OMIM:617201
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Hypoesthesia, Vocal cord paralysis, Hand paresthesia OMIM:162500
Developmental And Epileptic Encephalopathy 86
Dystonia, Small for gestational age, Generalized hypotonia, Myoclonic seizure OMIM:618910
Mucolipidosis Iv
Cerebellar atrophy, Babinski sign, Hypotonia, Spastic tetraplegia, Generalized hypotonia, Dystonia OMIM:252650
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
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Lower limb spasticity, Generalized-onset seizure, Akinesia, Abnormal pyramida... OMIM:618249
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Axial hypotonia, Ataxia, Inability to walk, Dysmetria, Cerebellar hypoplasia, Dystonia, Oculomoto... OMIM:618087
Allan-Herndon-Dudley Syndrome
Axial hypotonia, Ataxia, Small for gestational age, Failure to thrive in infancy, Babinski sign, ... ORPHA:59
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Seizure, Cerebellar hypoplasia OMIM:616171
Posttransplant Acute Limbic Encephalitis
Ataxia, EEG with abnormally slow frequencies, EEG with focal epileptiform discharges, Seizure, My... ORPHA:163921
Cochleosaccular Degeneration-Cataract Syndrome
Seizure, Ataxia ORPHA:3233
Pontocerebellar Hypoplasia, Type 1B
Cerebellar atrophy, Cerebral atrophy, Seizure, Tongue fasciculations, Oculomotor apraxia, Spastic... OMIM:614678
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Gait ... OMIM:619092
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Tongue fasciculations, Dysphagia, Fasciculations OMIM:613435
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Infantile spasms, G... ORPHA:1934
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Shuffling gait,... OMIM:311510
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Hypertonia, Generalized hypotonia, Dystonia OMIM:614654
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal p... OMIM:614298
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Ataxia, Tremor, Spastic tetraplegi... OMIM:617710
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ... ORPHA:401768
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Cerebellar atrophy, Spastic tetraparesis, Progressive spastic paraparesis, Seizure ORPHA:496756
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Impai... OMIM:607706
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Generalized-onset seizure, Respiratory insufficiency due to muscle weakness... ORPHA:254875
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Involuntary movements, Focal hyperkinetic seizure, Increased thet... ORPHA:98784
Neuroferritinopathy
Resting tremor, Abnormal dentate nucleus morphology, Caudate atrophy, Writer's cramp, Parkinsonis... ORPHA:157846
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Bilateral tonic-clonic seizure, Chorea, Cerebral atrophy, Opisthotonus, Statu... OMIM:616672
Myasthenic Syndrome, Congenital, 12
Fatigable weakness OMIM:610542
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Distal sensory impairment, Steppage gait, Hypertonia, Spasticity OMIM:609260
Episodic Ataxia Type 1
Cerebellar atrophy, Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait, Hypertonia ORPHA:37612
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Axial hypotonia, Ataxia, Babinski sign, Hypotonia, Generalized hypotonia, Dys... OMIM:618226
Dpm1-Cdg
Early onset absence seizures, Cerebellar atrophy, Ataxia, Cerebral atrophy, Seizure, Pontocerebel... ORPHA:79322
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure OMIM:300717
Aicardi-Goutieres Syndrome 3
Spasticity, Hypotonia, Generalized hypotonia, Dystonia OMIM:610329
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl... OMIM:614207
Intellectual Developmental Disorder, Autosomal Dominant 62
Seizure, Cerebellar vermis atrophy OMIM:618793
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Fatigable weakness OMIM:616325
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Ataxia, Dysesthesia, Unsteady gait, Babinski sign, Limb ataxia, Gait ataxia, ... OMIM:619259
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebellar atrophy, Clonus, Spastic tetraparesis, Inability to walk, Seizure, Cerebral cortical a... OMIM:617481
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Fatigable weakness OMIM:616322
Gerstmann-Straussler-Scheinker Syndrome
Dysesthesia, Abnormal cerebellum morphology, Gait ataxia, Abnormality of extrapyramidal motor fun... ORPHA:356
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Babinski sign, Hypotonia, Focal dystonia, Spastic dysarthria, Progressive gait a... ORPHA:447757
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... OMIM:312080
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Cerebellar atrophy, Clonus, Babinski sign, Progressive cerebellar ataxia, Febrile seizure (within... OMIM:618868
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Tre... ORPHA:206443
Sulfite Oxidase Deficiency, Isolated
Axial hypotonia, Generalized dystonia, Ataxia, Cerebral atrophy, Choreoathetosis, Hypertonia, Cer... OMIM:272300
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Babinski sign, Vestibular areflexia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... ORPHA:504476
Pontocerebellar Hypoplasia, Type 3
Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Seizure, Cerebellar hypoplasia, Atr... OMIM:608027
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Abnormal posturing, Dysphagia OMIM:304700
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Cerebellar edema, Seizure precipitated by febrile infection, Bilatera... ORPHA:363558
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Steppage gait, Fasciculations, Distal sensory impairment OMIM:606595
Short Chain Acyl-Coa Dehydrogenase Deficiency
Seizure, Hypertonia, Dystonia, Failure to thrive, Infantile muscular hypotonia ORPHA:26792
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Tremor, Chorea, Impaired distal vibration sensation, Impaired proprioception,... OMIM:606002
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Distal sensory impairment, Paralysis OMIM:613710
Cach Syndrome
Cerebellar atrophy, Premature ovarian insufficiency, Truncal ataxia, Cerebral atrophy, Secondary ... ORPHA:135
Unilateral Polymicrogyria
Apnea, Involuntary movements, Infantile spasms, Epistaxis, Focal-onset seizure, Spastic tetrapleg... ORPHA:268943
Pontocerebellar Hypoplasia Type 1
Ataxia, Congenital laryngeal stridor, Seizure, Respiratory failure, Tongue fasciculations, Spasti... ORPHA:2254
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Lower limb spasticity, Babinski sign, Ankle clonus, Respiratory failure, Fasciculations, Tetrapar... OMIM:613954
Developmental And Epileptic Encephalopathy 46
Generalized-onset seizure, Tremor, Cerebral atrophy, Seizure, Limb hypertonia OMIM:617162
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... OMIM:617854
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Seizure, Dysdiad... OMIM:610217
Spinocerebellar Ataxia, Autosomal Recessive 31
Axial hypotonia, Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Cerebellar hypoplasia, Dystonia OMIM:619422
Developmental And Epileptic Encephalopathy 106
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Cerebellar... OMIM:620028
Acute Peripheral Arterial Occlusion
Paresthesia, Impaired distal tactile sensation, Paralysis ORPHA:90064
Familial Or Sporadic Hemiplegic Migraine
Cerebellar atrophy, Involuntary movements, Impaired temperature sensation, Dissociated sensory lo... ORPHA:569
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Infantile spasms, Head titubation, Hypotonia, Truncal ataxia, Hypsarrhythmia, Seizure, Dystonia, ... ORPHA:88639
Machado-Joseph Disease Type 3
Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal... ORPHA:276244
Myasthenic Syndrome, Congenital, 16
Fatigable weakness OMIM:614198
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Gait ataxia, Seizure, Hy... OMIM:620089
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Seizure, Respi... OMIM:312170
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of respiratory muscles, Fatigable weakness of neck muscles, Decreased miniatur... ORPHA:98913
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressi... ORPHA:306511
Nicolaides-Baraitser Syndrome
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:3051
Developmental And Epileptic Encephalopathy 38
Multifocal seizures, Axial hypotonia, Ataxia, Hypsarrhythmia, Status epilepticus, Dystonia, Limb ... OMIM:617020
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Cerebellar atrophy, Inability to walk, Hypotonia, Abnormality of extrapyramidal motor function, G... OMIM:614739
Recessive Mitochondrial Ataxia Syndrome
Impaired vibratory sensation, Ataxia, Dysmetria, Seizure, Gait disturbance, Positive Romberg sign... ORPHA:94125
Cerebral Cavernous Malformations 3
Seizure, Paralysis OMIM:603285
Lissencephaly 2
Hypoplasia of the pons, Generalized-onset seizure, Cerebellar hypoplasia OMIM:257320
Roussy-Levy Hereditary Areflexic Dystasia
Distal sensory impairment, Action tremor, Upper limb postural tremor, Gait ataxia OMIM:180800
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Spastic... ORPHA:79351
Congenital Disorder Of Glycosylation, Type Iih
Cerebellar atrophy, Seizure, Status epilepticus, Ataxia OMIM:611182
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Cerebral atrophy, Gait disturban... OMIM:615838
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Axial hypotonia, Spastic tetraparesis, Hypotonia, Seizure, EEG abnormality, Dystonia OMIM:617668
Dystonia 28
Torticollis, Generalized dystonia, Abnormal pyramidal sign, Leg dystonia, Arm dystonia, Oromandib... ORPHA:589618
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Impaired vibration sensation in the lower limbs, Gait ataxia, Spastic dysarthria, Progressive cer... ORPHA:95433
Spontaneous Periodic Hypothermia
Tremor, Seizure, Ataxia, Gait disturbance ORPHA:29822
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ... OMIM:272750
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Hypotonia, Spastic tetraplegi... OMIM:250100
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia, Seizure ORPHA:3124
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... ORPHA:370022
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Ataxia, Generalized clonic seizure, Tremor, Focal-onset seizure, Inability... OMIM:619229
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Seizure, Hypertonia, Cerebellar hypoplasia OMIM:619556
Cog8-Cdg
Cerebellar atrophy, Ataxia, Seizure, Myoclonus, Atrophy/Degeneration affecting the brainstem ORPHA:95428
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Gait disturbance, Shu... ORPHA:289560
Autism, Susceptibility To, 3
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:608049
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Typical absence seizure ORPHA:576283
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Axial hypotonia, Spastic tetraparesis, Hypotonia, Abnormality of extrapyramid... OMIM:616299
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def... OMIM:613670
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Parkinsonism, F... OMIM:258450
Familial Hyperprolactinemia
Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Pontocerebellar Hypoplasia, Type 9
Axial hypotonia, Facial hypotonia, Clonus, Hypoplasia of the pons, Hypertonia, Cerebellar hypopla... OMIM:615809
Ataxia-Oculomotor Apraxia Type 4
Oculomotor apraxia, Somatic sensory dysfunction, Ataxia, Dystonia ORPHA:459033
Horner Syndrome, Congenital
Paralysis OMIM:143000
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Respiratory insufficiency due to muscle weakness, Babinski sign, Disinhibition, Dysphagia, Spasti... OMIM:612069
Hengel-Maroofian-Schols Syndrome
Cerebellar atrophy, Inability to walk, Hypotonia, Tetraplegia, Cerebral atrophy, Gait imbalance, ... OMIM:619641
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Hypertonia, Focal impaired awareness seizure, Generalized tonic sei... ORPHA:163985
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G... OMIM:616640
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Corpus callosum atrophy, Babinsk... ORPHA:171629
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Infertility OMIM:240950
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Postural tremor, Impair... ORPHA:99947
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Peroxisomal Acyl-Coa Oxidase Deficiency
Babinski sign, Hypotonia, Seizure, Hypertonia, Dystonia, Neonatal hypotonia OMIM:264470
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Babinski sign, Truncal ataxia, Seizure, Myoclonus, Dystonia, Neonatal hypotonia, Spasticity OMIM:252011
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Hypotonia, Choreoathetosis, Seizure, Gait disturb... ORPHA:702
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Hypotonia, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Spinocerebellar Ataxia, Autosomal Recessive 20
Cerebellar atrophy, Ataxia, Inability to walk, Babinski sign, Seizure, Cerebellar hypoplasia, Apr... OMIM:616354
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmat... ORPHA:230800
Houge-Janssens Syndrome 3
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... OMIM:618354
Gm1-Gangliosidosis, Type Iii
Diffuse cerebral atrophy, Slurred speech, Ataxia, Dystonia OMIM:230650
Nemaline Myopathy 8
Respiratory failure, Dysphagia OMIM:615348
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Opisthotonus, Seizure, Respiratory fa... OMIM:619847
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Charcot-Marie-Tooth Disease Type 4A
Impaired distal proprioception, Impaired pain sensation, Decreased nerve conduction velocity, Imp... ORPHA:99948
Intellectual Developmental Disorder, Autosomal Recessive 47
Focal impaired awareness seizure OMIM:616193
Friedreich Ataxia
Inability to walk, Chorea, Babinski sign, Impaired proprioception, Dysmetria, Gait ataxia, Limb a... ORPHA:95
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... ORPHA:309246
Joubert Syndrome 30
Cerebellar atrophy, Seizure, Superior cerebellar dysplasia, Dandy-Walker malformation OMIM:617622
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Ataxia, Tachypnea, Respiratory insufficiency, Seizure, Respiratory failure,... OMIM:614299
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy... OMIM:616973
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Dystonia, Atrophy/Degeneration affecting the brainstem, Hypotonia, Brain atrophy, Generalized hyp... OMIM:616277
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Seizure, Shuffling... ORPHA:3077
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
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
Leigh Syndrome
Ataxia, Respiratory insufficiency, Seizure, Respiratory failure, Spasticity, Abnormal pattern of ... OMIM:256000
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Cloni... OMIM:619580
Thyrocerebroretinal Syndrome
Seizure, Slurred speech, Ataxia, Myoclonus OMIM:274240
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Toni... OMIM:615851
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Gait disturbance, Myoclonus, Dystonia, Neuronal loss in central nervous ... OMIM:600795
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Hypertonia, Gait disturbance, Photosensitive myoclonic seizure, Aplasia/Hypoplasia of the... ORPHA:1192
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Vocal cord paralysis, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Bilateral Polymicrogyria
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, ... ORPHA:268940
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Small for gestational age, Inability to... ORPHA:79243
Dihydrolipoamide Dehydrogenase Deficiency
Seizure, Ataxia, Hypotonia, Dystonia OMIM:246900
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Cerebr... ORPHA:79264
Combined Oxidative Phosphorylation Deficiency 13
Axial hypotonia, Severe muscular hypotonia, Decreased nerve conduction velocity, Choreoathetosis,... OMIM:614932
Charcot-Marie-Tooth Disease And Deafness
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment OMIM:118300
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Seizure OMIM:618302
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
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Somatic sensory dysfunction, Paraplegia ORPHA:71211
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Ataxia, Hypotonia, Limb ataxia, Gait ataxia, Spasticity, Cerebellar cortical ... OMIM:248800
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
East Syndrome
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Inability to walk, Seizure, Difficulty wal... ORPHA:199343
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Rett Syndrome
Dystonia, Cachexia, Gait apraxia, Gait ataxia, Seizure, EEG abnormality, Truncal ataxia, Spasticity OMIM:312750
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Corpus callosum atrophy, Abnormal pyramidal sign, Tetraplegia, Brain atrophy,... ORPHA:369939
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Spasticity, Cerebral atrophy, Dystonia OMIM:610333
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign... ORPHA:98808
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Tetraplegia, Hand tremor, Degeneration of anterior horn cells, Distal sensory impairment, Gait di... OMIM:604484
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Hypertonia, Myoclonus, Myoclonic seizure OMIM:618240
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Clumsiness, Seizure, Progressive... ORPHA:309256
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, Seizure, EEG abnormality, Gait disturbance, Diffic... ORPHA:778
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-moto... OMIM:615802
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Cerebral atrophy, Hypertonia, Cerebellar hemisphere hypoplasia, Spasticity OMIM:615095
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Focal-onset seizure, Oromotor apraxia, Hemiparesis, S... ORPHA:300573
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Babinski si... ORPHA:52368
Autosomal Dominant Spastic Paraplegia Type 36
Lower limb spasticity, Distal muscle weakness, Impaired temperature sensation, Abnormal brainstem... ORPHA:320365
Mitochondrial Complex I Deficiency, Nuclear Type 8
Axial dystonia, Tetraparesis, Generalized hypotonia, Dystonia OMIM:618230
Valinemia
Hyperkinetic movements OMIM:277100
Developmental And Epileptic Encephalopathy 40
Choreoathetosis, Spasticity, Myoclonus, Spastic tetraparesis OMIM:617065
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im... OMIM:300607
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Epileptic spasm, Myoclonus, Cerebral atrophy OMIM:619060
Developmental And Epileptic Encephalopathy 84
Epileptic spasm, Axial hypotonia, EEG with burst suppression, Chorea, Babinski sign, Opisthotonus... OMIM:618792
Oromandibular Dystonia
Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ... ORPHA:93958
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... OMIM:602099
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Seizure, Respiratory failure OMIM:611890
Myasthenic Syndrome, Congenital, 10
Fatigable weakness OMIM:254300
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Choreoathetosis, Seizure, Gai... ORPHA:765
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Combined Malonic And Methylmalonic Acidemia
Axial hypotonia, Generalized clonic seizure, Seizure, Focal impaired awareness seizure, Dystonia,... ORPHA:289504
Amyotrophic Dystonic Paraplegia
Spastic paraplegia, Dystonia OMIM:105300
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Facial palsy, Proximal muscle weakness, Generalized muscle weakness, Tip-toe ... OMIM:606612
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Myoclonic seizure, Fasciculations, Brai... OMIM:620327
X-Linked Creatine Transporter Deficiency
Ataxia, Cachexia, Chorea, Hypotonia, Seizure, Athetosis, Hypertonia, Dystonia ORPHA:52503
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Hyps... ORPHA:442835
Cog7-Cdg
Cerebellar atrophy, Seizure, Subcortical cerebral atrophy, Brain atrophy ORPHA:79333
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Lethal Congenital Contracture Syndrome 8
Oral-pharyngeal dysphagia, Vocal cord paralysis, Distal sensory impairment OMIM:616287
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Temporal cortical atrophy, Gait disturbance, Tetraparesis, Brain atrophy, Dystonia, Loss of ambul... OMIM:167320
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Seizure, Tetraparesis ORPHA:140989
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Impaired distal vibration sensation, Distal sensory impairment, Steppage gait, Tip-toe gait, Fasc... OMIM:614436
Adenylosuccinase Deficiency
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Opisthotonus, Gait ataxia, Seizure, Myoc... OMIM:103050
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Bilateral tonic-clonic seizure with generalized onset, Infantile axial hypot... ORPHA:2524
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
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Abnormal brainstem morphology, Paresthesia, Myoc... ORPHA:79279
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Generalized dystonia, Unsteady gait, Cerebral atrophy, Gait disturbance, Myoc... ORPHA:412217
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Myoclonic seizure, Seizure, Bradypnea, Respi... OMIM:617186
Siddiqi Syndrome
Seizure, Limb dystonia OMIM:618635
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia ORPHA:71518
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia OMIM:250850
Congenital Disorder Of Glycosylation, Type In
Spasticity, Ataxia, Myoclonus OMIM:612015
Pontocerebellar Hypoplasia Type 4
Hypertonia, Myoclonus, Olivopontocerebellar hypoplasia ORPHA:166063
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential, Distal sensory impairment, Stridor, Respiratory ... OMIM:606071
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebellar atrophy, Corpus callosum atrophy, Tetraplegia, Opisthotonus, Cerebral atrophy, Seizure... OMIM:619272
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Ataxia, Hypotonia, Generalized hypotonia OMIM:300619
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Cerebellar atrophy, Axial hypotonia, Spastic tetraparesis, Generalized hypotonia OMIM:618506
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with... ORPHA:163681
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Angelman Syndrome
Broad-based gait, Ataxia, Infantile spasms, Tremor, Inability to walk, Seizure, Status epilepticu... ORPHA:72
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Srd5A3-Cdg
Cerebellar atrophy, Ataxia, Abnormal cerebellum morphology, Seizure, Abnormal cerebellar vermis m... ORPHA:324737
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, G... OMIM:300912
Thoracic Dysplasia-Hydrocephalus Syndrome
Seizure, Respiratory failure, Ataxia ORPHA:1861
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology, Spastic diplegia, Cerebral atrophy... ORPHA:255182
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Axial hypotonia, Ataxia, Spastic tetraparesis, Cerebellar gliosis, Unsteady g... ORPHA:35069
Shukla-Vernon Syndrome
Cerebellar atrophy, Seizure, Broad-based gait OMIM:301029
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Ankle clonu... OMIM:213700
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Ataxia, Photosensitive tonic-clonic seizure, Loss of ability to walk in first... OMIM:300243
Ceroid Lipofuscinosis, Neuronal, 3
Parkinsonism, Abnormal cerebellum morphology, Abnormality of extrapyramidal motor function, Myocl... OMIM:204200
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Fal... ORPHA:683
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Focal-onset seizure, Inability to walk, Cerebral atrophy, Seizure, Status epi... OMIM:617802
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Generalized-onset seizure, Hypotonia, Seizure, EEG abnormality, Generalized hypotonia, Dystonia OMIM:617268
Myopathy With Extrapyramidal Signs
Ataxia, Clonus, Tremor, Chorea, Hypotonia, Clumsiness, Choreoathetosis, Abnormality of extrapyram... OMIM:615673
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Hyperactivity, Paralysis, Aggressive behavior, Parap... ORPHA:43
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Epileptic spasm, Diffuse cerebral atrophy, Bilateral t... OMIM:617193
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ... ORPHA:431361
Cimdag Syndrome
Cerebellar vermis hypoplasia, Ataxia, Chorea, Hypotonia, Cerebral atrophy, Pontocerebellar atroph... OMIM:619273
Ravine Syndrome
Spasticity, Abnormal brainstem morphology, Ataxia, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia OMIM:609425
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Weakness due to upper motor neuron d... ORPHA:466722
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Ataxia, Respiratory insufficiency, Seizure, Respiratory failure, D... OMIM:607625
Amyotrophic Lateral Sclerosis
Paralysis, Dyspnea, Abnormal respiratory system physiology, Respiratory failure, Agitation, Spast... ORPHA:803
Multiple Mitochondrial Dysfunctions Syndrome 3
Seizure, Respiratory failure, Spastic tetraplegia, Respiratory insufficiency OMIM:615330
Cystathioninuria
Tremor, Seizure ORPHA:212
Childhood-Onset Spasticity With Hyperglycinemia
Ataxia, Loss of ability to walk in early childhood, Unsteady gait, Babinski sign, Spastic diplegi... ORPHA:401866
Phosphoserine Aminotransferase Deficiency
Hypertonia, Cerebellar vermis hypoplasia, Myoclonus OMIM:610992
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Diaphragmatic paralysis, Tachypnea, Respiratory failure, Ins... OMIM:604320
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Seizure, Hyperkinetic movem... OMIM:300957
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Hypotonia, Cerebellar hypoplasia, Generalized hypotonia, Truncal ataxia, Intention tremor OMIM:614407
Superficial Siderosis
Cerebellar atrophy, Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of t... ORPHA:247245
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gai... OMIM:254900
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Variegate Porphyria
Paralysis OMIM:176200
Multiple Mitochondrial Dysfunctions Syndrome 1
Spastic tetraparesis, Focal-onset seizure, Respiratory insufficiency, Opisthotonus, Respiratory f... OMIM:605711
Pontocerebellar Hypoplasia, Type 2A
Hypoplasia of the pons, Chorea, Opisthotonus, Cerebellar hypoplasia, Extrapyramidal dyskinesia, D... OMIM:277470
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Poor gross motor coordination, Respiratory insufficiency ORPHA:370968
Crigler-Najjar Syndrome Type 1
Tremor, Seizure ORPHA:79234
Leukoencephalopathy With Ataxia
Action tremor, Limb ataxia, Gait ataxia OMIM:615651
Developmental And Epileptic Encephalopathy 29
Axial hypotonia, Chorea, Myoclonic seizure, Blepharospasm, Limb dystonia, Spasticity, Failure to ... OMIM:616339
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Impaired distal vibration sensation, Spastic paraplegia, Tetraplegia, Pseu... OMIM:616586
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pseudobulbar paralysis, Fasci... OMIM:105400
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Respiratory failure, Apnea OMIM:618414
Pontocerebellar Hypoplasia, Type 1D
Cerebellar atrophy, Cerebral atrophy, Seizure, Tongue fasciculations, Fasciculations, Spasticity,... OMIM:618065
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Abnormal cerebellum morphology, Kinetic tremor OMIM:190310
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Upper limb spasticity, G... ORPHA:457240
Autosomal Dominant Optic Atrophy, Classic Form
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Spastic paraplegia, Hemiparesis, Seizure, Ga... ORPHA:98673
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Fasciculations, Spasticity OMIM:614808
Pontocerebellar Hypoplasia, Type 11
Ataxia, Poor coordination, Limb ataxia, Seizure, Self-injurious behavior, Attention deficit hyper... OMIM:617695
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Vocal cord paralysis OMIM:607641
Combined Oxidative Phosphorylation Deficiency 52
Seizure, Respiratory failure, Anorexia OMIM:619386
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Somatic sensory dysfunction, Steppage gait, Fasciculations, Impaired distal tactile sensation OMIM:600882
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Focal impaired aware... OMIM:620292
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Dystonia, Spasticity OMIM:619286
Mitochondrial Complex I Deficiency, Nuclear Type 13
Generalized dystonia, Bilateral tonic-clonic seizure, Focal motor seizure, Spasticity, Failure to... OMIM:618235
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Fasciculations, Difficulty walking OMIM:615575
Stt3A-Cdg
Cerebellar atrophy, Seizure ORPHA:370921
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Generalized-onset seizure, Facial hypotonia, Hypotonia, Gait ataxia, Difficulty... OMIM:617807
Gaucher Disease Type 2
Generalized myoclonic seizure, Spasticity, Dystonia ORPHA:77260
Idiopathic Camptocormia
Abnormal synaptic transmission at the neuromuscular junction, Fatigable weakness of skeletal muscles ORPHA:1320
Pontocerebellar Hypoplasia Type 10
Spasticity, Hypertonia, Abnormal brainstem morphology, Poor head control ORPHA:411493
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Fasciculations, Distal sensory impairment OMIM:137200
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Ataxia ORPHA:3350
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... OMIM:168601
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Cerebellar atrophy, Axial hypotonia, Cerebral atrophy, Limb dystonia OMIM:620269
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... ORPHA:2302
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Cerebellar atrophy, Ataxia, Tremor, Inability to walk, Chorea, Hyp... OMIM:615356
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements ORPHA:209970
Tryptophanuria With Dwarfism
Ataxia, Gait disturbance OMIM:276100
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakness, Hypertonia, Foot ... ORPHA:466768
Dystonia-Deafness Syndrome 1
Generalized dystonia, Small for gestational age, Oculogyric crisis, Leg dystonia, Pseudobulbar pa... OMIM:607371
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Abnormal brainstem morphology, Dysmetria, Gait ataxi... ORPHA:93256
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Infantile spasms, Action tremor, Inability to walk, Chorea, Oculomotor apraxi... ORPHA:404454
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Febrile seizure (within the age range of 3 mo... ORPHA:496641
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Seizure, Status epilepticus, Myoclo... OMIM:607426
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Incoordination, Ataxia, Involuntary movement... ORPHA:209905
Isaacs Syndrome
Fasciculations, Distal sensory impairment ORPHA:84142
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Ataxia, Spastic paraplegia, Hypotonia, Tetraplegia, Dystonia, Cerebral cortic... ORPHA:254913
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Ataxia, Myoclonus OMIM:256730
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Poor coordination, Axonal degeneration, Neurodegeneration, Myoclo... ORPHA:478029
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Inability to walk, Chorea, Hypotonia, Hemiparesis, Cerebellar hypoplasia, Dy... OMIM:618004
Infantile Krabbe Disease
Respiratory distress, Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Decr... ORPHA:206436
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Ataxia, Gait ataxia, ... ORPHA:543470
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Dilated fourth ventric... ORPHA:572798
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Seizure, Infantile spasms, Cerebral atrophy OMIM:619797
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Involuntary movements, Unsteady gait, Generalized non-motor (abse... OMIM:617798
Developmental And Epileptic Encephalopathy 66
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... OMIM:618067
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Generalized non-motor (absence) seizure, Seizure, Subcortical cerebral atrophy, ... ORPHA:96147
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Glutaric Acidemia I
Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Seizure, Generalized hypoto... OMIM:231670
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Babinski sign, Clumsiness, Seizure, Progressive gait ataxia,... ORPHA:309263
Scholte Syndrome
Cerebellar atrophy, Abnormal pyramidal sign, Generalized hypotonia OMIM:300977
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hypotonia, Choreoathetosis, Seizure, Dystonia, Failure to thrive ORPHA:79312
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Babinski sign, Respiratory insufficiency, Seizure, Res... OMIM:618186
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Seizure, Spasticity, Abnormal pyramidal sign OMIM:614833
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Axial dystonia, Decreased motor nerve conduction velocity, Failure to thrive in infancy, Spastic ... OMIM:619026
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Spastic tetraplegia, Seizure, Respiratory f... ORPHA:3240
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Cerebellar atrophy, Torticollis, Axial hypotonia, Ataxia, Limb hypertonia OMIM:618547
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Abnormal cerebellum morphology, Babinski sign, Impaired vibration sensation in the lower ... ORPHA:447753
Early-Onset Lafora Body Disease
Seizure, Ataxia, Myoclonus, Spastic tetraparesis ORPHA:324290
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Japanese Encephalitis
Respiratory distress, Decreased motor nerve conduction velocity, Anorexia, Tremor, Opisthotonus, ... ORPHA:79139
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Pelizaeus-Merzbacher Disease In Female Carriers
Lower limb spasticity, Generalized-onset seizure, Inability to walk, Babinski sign, Gait disturba... ORPHA:280229
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w... OMIM:617988
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Cataplexy, Spasticity, Cerebellar atrophy, Ataxia OMIM:604121
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Seizure, Respir... ORPHA:445038
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Hypertonia, Ce... OMIM:615501
Leber Optic Atrophy
Postural tremor, Ataxia, Dystonia OMIM:535000
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G... ORPHA:206594
Classic Galactosemia
Speech apraxia, Incoordination, Postural tremor, Ataxia, Clumsiness, Seizure, Gait disturbance, G... ORPHA:79239
Snakebite Envenomation
Epistaxis, Paralysis, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory failure, Respi... ORPHA:449285
Aceruloplasminemia
Abnormal dentate nucleus morphology, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Ak... ORPHA:48818
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Cerebral atrophy, Head tremor, Atrophy... ORPHA:314404
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... OMIM:168605
Synaptic Congenital Myasthenic Syndromes
Abnormal synaptic transmission at the neuromuscular junction, Unfavorable response of muscle weak... ORPHA:98915
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Hypotonia, Seizure, Dystonia, Spasticity, Failure to thrive OMIM:614702
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements ORPHA:397933
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Axonal degeneration, Generalized hypotonia, Dystonia, Spasticity, Global brai... OMIM:616811
Mercury Poisoning
Respiratory distress, Anorexia, Tremor, Dyspnea, Seizure, Respiratory failure, Interstitial pneum... ORPHA:330021
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Gait ataxia, Seizure, Spasticity, Spastic gait ORPHA:496790
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Hoffmann sign, Babinski sign... OMIM:601162
Combined Oxidative Phosphorylation Deficiency 50
Generalized dystonia OMIM:619025
Myoclonus, Intractable, Neonatal
Athetosis, Chorea, Myoclonus, Dandy-Walker malformation OMIM:617235
Primary Progressive Freezing Gait
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Shuffling gait, Gait imbalance, D... ORPHA:75567
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Myoclonus, Cerebral atrophy OMIM:619609
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Tremor, Spastic diplegia, Obesity, Seizure, Generalized hypotonia, Dystonia ORPHA:480907
Mitochondrial Complex I Deficiency, Nuclear Type 31
Myoclonus, Dysmetria OMIM:618251
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Cerebral palsy, Repetitive compulsive behavior, Seizure, Hypertonia, Compulsive be... ORPHA:352490
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity OMIM:616840
Stt3B-Cdg
Cerebellar atrophy, Seizure ORPHA:370924
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Thyrocerebrorenal Syndrome
Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia ORPHA:3327
Foodborne Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:228371
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Spastic parap... ORPHA:363722
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Lower limb spasticity, Generalized non-motor (absence) seizure ORPHA:363686
Combined Oxidative Phosphorylation Defect Type 13
Axial hypotonia, Decreased nerve conduction velocity, Choreoathetosis, Lower limb hypertonia, Gen... ORPHA:319514
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Seizure, Spasticity, Limb hypertonia OMIM:616212
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Hypertonia, Limb tremor, Myoclonus OMIM:300699
Alpha-Mannosidosis, Adult Form
Cerebellar atrophy, Ataxia, Clumsiness, Subcortical cerebral atrophy, Cerebral cortical atrophy ORPHA:309288
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Hypsarrhythmia, Myoclonic seizure, Hypertonia, A... OMIM:619877
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Seizure, Cerebellar vermis atrophy OMIM:618347
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Lower limb spasticity, Broad-based gait, Babinski sign, Steppage gait, Tip-toe gai... OMIM:615290
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hemiplegia/hemiparesis, Chorea, Hypotonia, Choreoathetosis, Dystonia ORPHA:289916
Peho Syndrome
Cerebellar atrophy, Seizure, Neuronal loss in central nervous system, Myoclonus OMIM:260565
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Inability to walk, Slurred speech... ORPHA:357058
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Axial hypotonia, Corpus callosum atrophy, Cerebral atrophy, Generalized hypot... OMIM:616875
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Hypotonia, Spastic diplegia, C... ORPHA:391428
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Dysphagia OMIM:616867
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Ataxia, Seizure, Inappropriate laughter, Febrile seizure (within t... OMIM:614104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Facial palsy, Inability to walk, Hypoplasia of the brainstem, Cereb... OMIM:613155
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Loss of ... OMIM:608627
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbanc... ORPHA:79244
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Clonus, Olivopontocerebellar hypo... ORPHA:370959
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Myoclonic seizure, Seizure, Myocl... OMIM:614946
Congenital Disorder Of Glycosylation, Type Ix
Cerebellar atrophy, Seizure OMIM:615597
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Oromotor apraxia, Spasticity, Seizure, Febrile seizure (within the age range ... ORPHA:466934
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Ataxia, Incoordina... ORPHA:480864
Poliomyelitis
Respiratory failure requiring assisted ventilation, Abnormal motor nerve conduction velocity, Par... ORPHA:2912
Combined Oxidative Phosphorylation Defect Type 39
Abnormal circulating enzyme concentration or activity, Lower limb spasticity, Poor head control, ... ORPHA:565624
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Myoclonus OMIM:609056
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Tremor, Hypotonia, Cerebral atrophy, Opisthotonus, Choreoathetosis, H... OMIM:616271
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations OMIM:616437
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, At... ORPHA:79138
Intermediate Nemaline Myopathy
Respiratory failure, Dysphagia ORPHA:171433
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168600
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Chorea, Babinski sign, Clumsiness, Seizure, Progressive spas... ORPHA:309271
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... ORPHA:178320
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Spastic Paraplegia 51, Autosomal Recessive
Cerebellar atrophy, Inability to walk, Babinski sign, Spastic paraplegia, Spastic tetraplegia, Se... OMIM:613744
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebellar atrophy, Ataxia, Inability to walk, Dysmetria, Myoclonic seizure, Spasticity, Cerebral... OMIM:619576
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... ORPHA:97355
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Shufflin... ORPHA:171695
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, EEG with generalized slow activity, Infantile spa... OMIM:300672
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Epileptic spasm, Axial hypotonia, Hypsarrhythmia, Seizure, Myoclonus, Dy... OMIM:617669
Manganese Poisoning
Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Gait disturbance, Abnorma... ORPHA:306682
Hereditary Hyperekplexia
Ataxia, Rigidity, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity ORPHA:3197
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Sneddon Syndrome
Tremor, Seizure, Chorea, Hemiparesis ORPHA:820
Developmental And Epileptic Encephalopathy 95
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Hypoplasia of th... OMIM:618143
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Small for gestational age, Bilateral tonic-clonic sei... OMIM:620024
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Axial hypotonia, Hypotonia, Seizure, Hypertonia, Gait disturban... OMIM:300352
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Cerebellar atrophy, Poor head control, Elevated circulating aspartate aminotransferase concentrat... OMIM:619685
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Unsteady gait, Myoclonus OMIM:610090
Leigh Syndrome
Chorea, Choreoathetosis, Ataxia, Abnormal brainstem MRI signal intensity, Ophthalmoplegia, Atheto... ORPHA:506
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Dyspnea, Vocal ... OMIM:211530
Leukodystrophy, Hypomyelinating, 12
Cerebellar atrophy, Spasticity, Focal impaired awareness seizure OMIM:616683
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Spasticity, Ataxia, Dystonia OMIM:617341
Postencephalitic Parkinsonism
Resting tremor, Oculogyric crisis, Involuntary movements, Akinesia, Rigidity, Babinski sign, Abno... ORPHA:97349
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Cerebral atrophy, Seizure, Hypertonia... OMIM:618426
Optic Atrophy 11
Ataxia, Gait apraxia, Dysmetria, Athetosis, Hyperkinetic movements, Cerebellar hypoplasia OMIM:617302
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Generalized non-motor (absence) seizure OMIM:612337
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Spasticity, Pallidal degeneration, Dystonia OMIM:607236
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Axial hypotonia, Ataxia, Hypotonia, Cerebral atrophy, Tetraparesis, Brain atr... OMIM:619260
Alg1-Cdg
Cerebellar atrophy, Seizure, Cerebral atrophy ORPHA:79327
Filippi Syndrome
Cerebellar atrophy, Dystonia OMIM:272440
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Axial hypotonia, Generalized dystonia, Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Gai... OMIM:618321
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Frequent falls, Respiratory failure ORPHA:75840
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Respiratory failure, Ataxia, Titubation ORPHA:280210
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations OMIM:271200
Combined Oxidative Phosphorylation Deficiency 39
Cerebellar atrophy, Involuntary movements, Babinski sign, Cerebral atrophy, Ankle clonus, Dystoni... OMIM:618397
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration OMIM:615919
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Secondary amen... OMIM:268020
Tibial Muscular Dystrophy
Respiratory failure, Clumsiness ORPHA:609
Weaver Syndrome
Bilateral tonic-clonic seizure, Slurred speech, Generalized non-motor (absence) seizure, Poor fin... OMIM:277590
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Primary amenorrhea, Azoospermia, Hypogonadism, Infertility, Decreased testicular size OMIM:229070
Xq28 (MECP2) duplication
Gait ataxia, Seizure, Progressive spasticity, Dysphagia, Abnormal repetitive mannerisms DECIPHER:45
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, Status epilepticus, Cerebellar vermis atrophy OMIM:615760
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia, Seizure, Self-injurious behavior, Abnormal repetitive manneris... ORPHA:228402
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Developmental And Epileptic Encephalopathy 72
Inability to walk, Hyperkinetic movements OMIM:618374
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Seizure, Status epilepticus, Neurodegeneration, Spasticity, Neuronal loss in ... OMIM:616239
Coach Syndrome 2
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Elevated circulating creatinine conc... OMIM:619111
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Self hugging, Head-banging, EEG abnormality, Seizure, Ony... OMIM:182290
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Ataxia-Telangiectasia
Ataxia, Tremor, Seizure, Gait disturbance, Spasticity ORPHA:100
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Hypertonia, Spasti... ORPHA:544503
Warburg Micro Syndrome 4
Cerebellar atrophy, Inability to walk, Babinski sign, Spastic tetraplegia, Seizure, Status epilep... OMIM:615663
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Hyperkinetic movements, Difficulty walking, Truncal ataxia ORPHA:369847
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Hypergonadotropic hypogonadism, Cryptorchidism, Secondary amenorrhea, Decreas... ORPHA:3085
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Progressive extrapyramidal movement disorder, Focal dystonia, C... ORPHA:199351
Congenital Disorder Of Glycosylation, Type Ii
Epileptic spasm, Dystonia, Infantile spasms, Hypsarrhythmia, Generalized hypotonia, Decreased bod... OMIM:607906
Spinocerebellar Ataxia Type 7
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Babinski sign, Dysmetria, Cerebral atrop... ORPHA:94147
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Parkinsonism, Seizure, Dystonia,... OMIM:200150
Charcot-Marie-Tooth Disease Type 4C
Cerebellar atrophy, Impaired pain sensation, Inability to walk, Impaired distal vibration sensati... ORPHA:99949
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... ORPHA:204
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Writer's cramp, Fatigable weakness of distal limb muscles, Impaired vibration sensation in the lo... ORPHA:324442
47,Xyy Syndrome
Male infertility, Macroorchidism, Cryptorchidism, Abnormal brainstem morphology, Oligozoospermia,... ORPHA:8
Sialidosis Type 2
Tremor, Seizure, Ataxia ORPHA:87876
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Severe muscular hypotonia, Ataxia, Infantile spasms, Poor motor coordination, Tremor, R... ORPHA:25
Niemann-Pick Disease, Type C1
Ataxia, Hypotonia, Gait ataxia, Seizure, Generalized hypotonia, Dystonia, Cataplexy, Spasticity OMIM:257220
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Axial hypotonia, Oculogyric crisis, Babinski sign, Lim... OMIM:608643
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Molar tooth sign on MRI, Elongated supe... OMIM:609583
Alg3-Cdg
Spastic tetraparesis, Hypoplasia of the pons, Hypotonia, Subcortical cerebral atrophy, Hypertonia... ORPHA:79321
Congenital Disorder Of Glycosylation, Type Id
Cerebellar atrophy, Spastic tetraparesis, Cerebral atrophy, Seizure, Hypertonia OMIM:601110
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Frequent falls, Nocturnal hypoventilation, Respiratory failure OMIM:603689
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Axial hypotonia, Vocal cord paralysis, Hypsarrhythmia, Seizure, Myoclonus, Dysto... ORPHA:500144
Riboflavin Transporter Deficiency
Tremor, Seizure, Ataxia, Myoclonus ORPHA:97229
Rett Syndrome, Congenital Variant
Chorea, Tongue thrusting, Bruxism, Athetosis, Seizure, EEG abnormality, Apraxia, Aspiration, Spas... OMIM:613454
Mitochondrial Complex I Deficiency, Nuclear Type 33
Axial hypotonia, Small for gestational age, Seizure, Status epilepticus, Generalized hypotonia, L... OMIM:618253
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Dysphagia ORPHA:352447
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Poor head control, Agenesis of cerebellar vermis, Hypoplasia of the pons, H... OMIM:613153
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Cerebellar vermis hypoplasia, Axial hypotonia, Hypoplasia of the pons, Spast... OMIM:619909
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Cerebellar vermis atrophy, Limb ataxia, Truncal ataxia OMIM:617101
Hemimegalencephaly
Hemiparesis, Myoclonus, Abnormal neuron morphology ORPHA:99802
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Facial hypotonia, Ataxia, Tremor, Rigidity, Chorea, Episodic hemi... ORPHA:2131
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cerebral cortical atrophy, Spastic tetraparesis, Dystonia ORPHA:404451
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Impaired vibratory sensation, Impaired distal proprioception, Impaired pain sensation, Decreased ... ORPHA:101097
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Obses... OMIM:618825
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Parkinsonism, Rigidity, Slurred speech, Leg dystonia, Choreoathetosis, Seizure, Tip-toe... ORPHA:157850
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho... OMIM:617675
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Inability to ... ORPHA:101085
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cerebellar atrophy, Partial absence of cerebellar vermis, Unsteady gait, Seizure, Cerebellar hypo... ORPHA:329224
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Seizure, Tip-toe gait, Gait ... ORPHA:512
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Inability to walk, Unsteady gait, Cerebral... OMIM:618443
Niemann-Pick Disease Type C
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Aspi... ORPHA:646
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Seizure, Pontoce... ORPHA:258
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cerebellar atrophy, Ataxia, Involuntary movements, Inability to walk, Chorea, Hypotonia, Cerebral... OMIM:617804
Familial Cervical Artery Dissection
Paresthesia, Paralysis ORPHA:36382
Meckel Syndrome 13
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Cerebellar hypoplasia OMIM:617562
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Galloway-Mowat Syndrome 9
Choreoathetosis, Cerebellar atrophy, Cerebral cortical atrophy OMIM:619603
X-Linked Intellectual Disability, Cantagrel Type
Seizure, Abnormal repetitive mannerisms, Tetraparesis ORPHA:85277
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Seizure, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper m... ORPHA:530983
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Seizure, Neurodegeneration, Cerebellar hypoplasia, ... OMIM:214150
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Ataxia, Myoclonus OMIM:618225
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance ORPHA:83629
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Sensory ataxia, Distal sensory impairment, Gait ataxia... OMIM:614895
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Brain atrophy, Limb dystonia, Neuronal loss in c... OMIM:604377
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Seizure, Respirat... OMIM:220110
Birk-Landau-Perez Syndrome
Axial hypotonia, Facial hypotonia, Failure to thrive in infancy, Limb ataxia, Choreoathetosis, Ap... OMIM:617595
Polyendocrine-Polyneuropathy Syndrome
Cerebellar hypoplasia, Ataxia, Abnormal pyramidal sign, Dystonia ORPHA:453533
Intellectual Developmental Disorder, Autosomal Dominant 43
Ataxia, Hypotonia, Seizure, Dystonia, Failure to thrive OMIM:616977
Mitochondrial Dna Depletion Syndrome 11
Cerebellar atrophy, Progressive external ophthalmoplegia, Hypergonadotropic hypogonadism, Facial ... OMIM:615084
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment OMIM:604218
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Seizure, Positive ... OMIM:105210
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Gangliocytoma
Decreased female libido, Distal muscle weakness, Abnormal cerebellum morphology, Abnormal brainst... ORPHA:251937
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Cerebellar hypoplasia, Dystonia OMIM:616113
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Inability to w... OMIM:617799
Laryngeal Abductor Paralysis
Stridor, Vocal cord paralysis, Dysphagia OMIM:150260
Pontocerebellar Hypoplasia, Type 7
Ataxia, Hypoplasia of the pons, Hydrocephalus, Spastic paraplegia, Opisthotonus, Choreoathetosis,... OMIM:614969
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Seizure, Generalized non-motor (absence) seizure OMIM:617360
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Elevated hepatic transaminase, Cerebellar vermis hy... OMIM:212065
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Kinsship Syndrome
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ... OMIM:619297
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Ataxia, Head titubation, Hypoplasia of the pons, Dysmetria, Cerebellar hypopl... OMIM:619708
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi... OMIM:620141
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gene... ORPHA:369837
Thymic Carcinoma
Fatigable weakness ORPHA:99868
Slc35A2-Cdg
Cerebellar atrophy, Elevated hepatic transaminase, Abnormal midbrain morphology, Spastic tetrapar... ORPHA:356961
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Seizure, Gait disturbance, Dystonia OMIM:617903
Glioblastoma
Seizure, Paralysis ORPHA:360
Cog5-Cdg
Cerebellar atrophy, Elevated hepatic transaminase, Diffuse cerebral atrophy, Cryptorchidism, Trun... ORPHA:263487
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Developmental And Epileptic Encephalopathy 23
Hypoplasia of the pons, Myoclonus OMIM:615859
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Microtriplication 11Q24.1
Retrocerebellar cyst, Hyperkinetic movements, Speech apraxia ORPHA:289522
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Aggressive behavior, Seizure, Self-injurious behavior, Skin-pi... OMIM:600430
Leukodystrophy, Progressive, Early Childhood-Onset
Appendicular spasticity, Axial hypotonia, Cerebral atrophy, Dystonia OMIM:617762
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, Paraplegia, Restrict... ORPHA:98897
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory failure, Respiratory insufficiency OMIM:245400
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Ataxia, Paraplegia, Seizure, Agitation, Abnormal repetitive mannerisms ORPHA:927
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Decreased nerve conduction velocity, Vocal cord paralysis, Seizure, Dysphagia ORPHA:397744
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Abnormal posturing, Tachypnea OMIM:614857
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Short Stature-Micrognathia Syndrome
Cerebellar atrophy, Seizure, Ataxia, Gait ataxia OMIM:617164
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Seizure, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Microcephaly, Amish Type
Limb hypertonia, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Myoclonus OMIM:607196
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk,... OMIM:620066
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Cerebral atrophy, Seizure, Focal impaired awareness seizure, Limb hypertonia OMIM:620306
Macrocephaly-Developmental Delay Syndrome
Recurrent pneumonia, Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with g... ORPHA:397612
Neurodevelopmental Disorder With Spasticity And Poor Growth
Axial hypotonia, Generalized dystonia, Clonus, Infantile spasms, Ataxia, Babinski sign, Opisthoto... OMIM:618076
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Broad-based gait, Small for gestational age, Failure to thrive in infancy, Poor coordination, Abn... OMIM:618891
Tyrosinemia Type 2
Tremor, Seizure, Ataxia ORPHA:28378
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Involuntary movements, Infantile spasms, Myoclonic seizure, Dysphagia, Spasticity, Abnormal repet... ORPHA:572013
Combined Oxidative Phosphorylation Deficiency 4
Spasticity, Respiratory failure, Opisthotonus OMIM:610678
Hijazi-Reis Syndrome
Ankle clonus, Lower limb spasticity, Seizure, Abnormal repetitive mannerisms OMIM:301094
Argininemia
Cerebellar atrophy, Seizure, Progressive spastic quadriplegia, Spastic paraparesis, Frequent fall... OMIM:207800
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Tracheomalacia, Decreased motor nerve conduction velocity, Vocal cord paralysis, Respiratory insu... OMIM:615490
Gm1 Gangliosidosis
Generalized dystonia, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Unst... ORPHA:354
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Gait disturbance, Myoclonus, Apraxia, Abnormal upper motor neuron morphology, Spas... OMIM:221770
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... ORPHA:459056
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Seizure, Compulsive behaviors, Spa... OMIM:618430
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Hypotonia, L... OMIM:248500
Nabais Sa-De Vries Syndrome, Type 2
Failure to thrive in infancy, Chorea, Hemiparesis, Seizure, Dystonia, Neonatal hypotonia OMIM:618829
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Seizure ORPHA:89844
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Axonal degeneration, Diaphragmatic paralysis, Hypotonia, Frequent falls, Craniofacial dystonia OMIM:620011
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Dysphagia, Stridor... ORPHA:142
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Seizure, Global brain atrophy OMIM:608776
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Gait disturbance, Myoclonus, Apraxia OMIM:618193
Multiple Sulfatase Deficiency
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neonatal hypotonia, Spasticity OMIM:272200
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Hypotonia, Seizure, Generalized hypotonia, Dystonia OMIM:277410
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Seizure, Epileptic spasm, Spasticity ORPHA:485421
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Seizure, Typical absence seizure, Cerebellar hypoplasia, Cerebellar cyst OMIM:618343
Trichothiodystrophy 8, Nonphotosensitive
Head titubation, Babinski sign, Spastic diplegia, Ankle clonus, Spasticity, Craniofacial dystonia OMIM:619691
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Broad-based gait, Facial hypotonia, Severe muscular hypotonia, Atax... ORPHA:438216
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Seizure, Cerebellar vermis atrophy, Gait ataxia OMIM:300354
Nipah Virus Disease
Tremor, Seizure, Myoclonus ORPHA:99825
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Brody Disease
Somatic sensory dysfunction, Fasciculations OMIM:601003
Neutral Lipid Storage Disease With Myopathy
Fasciculations, Difficulty walking OMIM:610717
Sialidosis Type 1
Ataxia, Tremor, Slurred speech, Seizure, Gait disturbance, Myoclonus ORPHA:812
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dandy... ORPHA:163961
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Dysesthesia, Babinski sign, Vocal cord paralysis, Gait ataxia, Chiar... ORPHA:268882
Porphyria, Acute Intermittent
Seizure, Respiratory paralysis, Paresthesia, Paralysis OMIM:176000
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Cereb... OMIM:619124
Coach Syndrome 1
Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Hypotonia, Gen... OMIM:216360
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Quadriceps muscle weakness, Gait ataxia, Hypertonia, Ataxia, Facial palsy, External ophth... ORPHA:254892
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gait a... ORPHA:513456
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hypertonia, Gait disturbance, Hyperkinetic movements OMIM:236270
48,Xxyy Syndrome
Ataxia, Apnea, Tremor, Asthma, Seizure, Attention deficit hyperactivity disorder, Abnormal repeti... ORPHA:10
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Clonus, Poor coordination, Spastic tetraplegia, Spastic diplegia, Gait ataxia, Cerebral a... OMIM:616878
Beta-Ureidopropionase Deficiency
Hypotonia, Hypsarrhythmia, Seizure, Status epilepticus, Dystonia, Neonatal hypotonia OMIM:613161
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Gaucher Disease, Type Iii
Ataxia, Myoclonus, Spastic paraparesis OMIM:231000
Combined Oxidative Phosphorylation Deficiency 57
Small for gestational age, Hypotonia, Seizure, Myoclonus, Dystonia OMIM:620167
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... ORPHA:33543
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Cerebellar atrophy, Cerebral atrophy, Seizure, Hippocampal atrophy, Status epilepticus, Limb hype... OMIM:618922
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Bruxism, Ab... OMIM:618342
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Seizure, Self-injurious behavior, Hypertonia, Compulsive behaviors, ... OMIM:300986
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Apnea, Clonus, Respiratory failure, Hypertonia, Dysphagia OMIM:617301
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypotonia, Ankle clonus, Seizure, Falls, Difficulty walking, Dystonia OMIM:618222
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Seizure, Lower limb hypertonia, Statu... OMIM:301072
Supranuclear Palsy, Progressive, 1
Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granu... OMIM:601104
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-b... ORPHA:522077
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Impaired vibration sensation in the lower limbs, Clumsiness, Steppage gait, Fasciculations, Frequ... ORPHA:521411
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Ataxia, Seizure, Dysdiadochokinesis, Intention tremor OMIM:612780
Combined Oxidative Phosphorylation Deficiency 12
Axial hypotonia, Spastic tetraparesis, Babinski sign, Hypotonia, Bradykinesia, Seizure, Dystonia,... OMIM:614924
Cadds
Cerebellar atrophy, Dystonia ORPHA:369942
Myasthenia Gravis
Fatigable weakness OMIM:254200
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Seizure, Progressive cerebell... OMIM:208900
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia, Dysphagia OMIM:620249
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, Seizure, EEG abnormality, Abnormal repetitive mannerisms OMIM:610883
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Generalized-onset seizure, Status epilepticus ORPHA:564178
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hypoplasia,... OMIM:615181
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Abnormal cerebellar cortex morpholo... ORPHA:70595
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Seizure, Respiratory failure ORPHA:1194
Lesch-Nyhan Syndrome
Hypotonia, Opisthotonus, Choreoathetosis, Seizure, Abnormality of extrapyramidal motor function, ... OMIM:300322
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Dyst... ORPHA:411602
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Elevated hepatic transaminase, Progressive external ophthalmoplegia, Facial p... OMIM:610131
Combined Oxidative Phosphorylation Defect Type 7
Bulbar palsy, Ataxia, Abnormal brainstem MRI signal intensity, Inability to walk, Ophthalmoplegia... ORPHA:254930
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Focal-onset seizure, Generalized-onset seizure, Status epilepticus, Paralysis ORPHA:83601
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ataxia, Hypotonia, Seizure, Myoclonus, Dystonia OMIM:619167
Combined Oxidative Phosphorylation Deficiency 11
Seizure, Respiratory failure, Tongue fasciculations, Myoclonus OMIM:614922
Sandestig-Stefanova Syndrome
EEG abnormality, Respiratory failure OMIM:618804
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Poor coordination, Generalized non-motor (absence) seizure, Seizu... ORPHA:466943
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cerebellar atrophy, Cryptorchidism, Patent ductus arteriosus, Cerebral atrophy OMIM:618659
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Rigidity, Generalized muscle weakness, Abnormal brainste... ORPHA:88619
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism ORPHA:178509
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Spasticity, Myoclonus OMIM:618201
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Olivopontocerebellar atrophy OMIM:146500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia OMIM:620358
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Cardiorespiratory arrest, Seizure, Respiratory failure, Restrictive ventilatory defect, ... ORPHA:26791
Myasthenia, Limb-Girdle, Autoimmune
Fatigable weakness OMIM:159400
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Poor coordination, Poor fine motor coordination, Seizure, Att... OMIM:620242
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Ataxia, Hypotonia, Cerebral atrophy, Choreoathetosis, Dystonia OMIM:615471
Biotinidase Deficiency
Seizure, Diffuse cerebral atrophy, Diffuse cerebellar atrophy, Ataxia OMIM:253260
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegen... OMIM:203700
Sneddon Syndrome
Tremor, Seizure, Hemiplegia, Impaired distal tactile sensation OMIM:182410
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Ataxia, Tremor, Seizure, Gait disturbance, Oculomotor apraxia ORPHA:220497
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Respiratory insufficiency, Hypertonia, Paresthes... ORPHA:682
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Exaggerated startle response, Tonic seizure, Seizure, Hypertonia, Spasticity,... OMIM:618367
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Elevated hepatic transaminase, Patent ductus arteriosus, Cerebral atrophy, El... OMIM:614576
Early Myoclonic Encephalopathy
Myoclonus ORPHA:1935
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Myoclonus, Intention tremor OMIM:610539
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Inability to walk, Fasciculations ORPHA:206546
Ritscher-Schinzel Syndrome 4
Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Focal-onset seizure, Ch... OMIM:619435
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis OMIM:620296
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Hemidystonia, Tremor, Obesity, Seizure, Neonatal hypotonia OMIM:619680
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Elevated hepatic transaminase, Poor head control, Cerebellar hypoplasia, Elev... OMIM:618329
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Attention defic... OMIM:619121
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Involuntary movements, Hypoplasia of the pons, Hypoplasia of the br... OMIM:618325
Propionic Acidemia
Axial hypotonia, Seizure, Dystonia, Failure to thrive, Limb hypertonia OMIM:606054
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Poor head control, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons mor... ORPHA:370997
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Obesity, Choreoathetosis, Seizure, Dystonia, Failure to thrive, Paroxysmal dyskin... ORPHA:261197
Glycine Encephalopathy 1
Myoclonus OMIM:605899
Joubert Syndrome
Cerebellar vermis hypoplasia, Ataxia, Tremor, Seizure, Gait disturbance, Oculomotor apraxia ORPHA:475
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... OMIM:265120
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder, ... ORPHA:313892
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology ORPHA:280195
Wieacker-Wolff Syndrome
Hypotonia, Seizure, Generalized hypotonia, Dystonia, Oculomotor apraxia, Spasticity, Apraxia OMIM:314580
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Unsteady gait, Hemiparesis, Midline brainstem cleft OMIM:617542
Mevalonic Aciduria
Cerebellar atrophy, Agenesis of cerebellar vermis, Ataxia, Hypotonia, Cerebral atrophy, Progressi... OMIM:610377
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Cerebellar vermis hypoplasia, Inability to walk, Oculomotor apraxia,... ORPHA:300570
Joubert Syndrome 21
Ataxia, Apnea, Dyspnea, Seizure, Respiratory failure, Dysphagia, Oculomotor apraxia, Chronic sinu... OMIM:615636
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Chorea, Gait ataxia, Seizure,... ORPHA:255210
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Pseudo-Torch Syndrome 1
Axial hypotonia, Hypotonia, Seizure, Dystonia, Spasticity, Failure to thrive OMIM:251290
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Dystonia, Ataxia, Hypotonia, Choreoathetosis, Generalized hypotonia, Difficulty... OMIM:610978
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Corpus callosum atrophy, Dystonic gait, Cerebral atrophy, Diffuse cerebellar atrophy, Limb hypert... ORPHA:480898
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... ORPHA:244
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Ataxia, Spastic tetraparesis, Inability to walk, Myelopathy, Hoffmann sign... ORPHA:139396
Acute Disseminated Encephalomyelitis
Viral hepatitis, Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal brainstem M... ORPHA:83597
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Craniosynostosis 6
Cerebellar atrophy, Hypotonia, Dandy-Walker malformation OMIM:616602
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Axial hypotonia, Parkinsonism, Oculogyric crisis, Tremor, Hypertonia ORPHA:1578
Mitochondrial Trifunctional Protein Deficiency
Babinski sign, Respiratory insufficiency, Seizure, Respiratory failure, Frequent falls ORPHA:746
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Seizure, Abnormal repetitive mannerisms ORPHA:529965
Vocal Cord And Pharyngeal Distal Myopathy
Respiratory insufficiency due to muscle weakness, Decreased nerve conduction velocity, Distal sen... ORPHA:600
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Bilateral tonic-clonic seizure, Tremor, Dyspnea, Respiratory insufficiency, Seizure, Resp... OMIM:610505
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, Dysphagia, Neonatal inspiratory stridor ORPHA:684
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Seizure, Respiratory failure, Focal impaired awareness seizu... OMIM:616482
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Rigidity, Hypotonia, Hypsarrhythmia, Seizure, Progressive spastic q... ORPHA:521426
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Cerebellar vermis hypoplasia, Cerebral atrophy, Seizure, Cerebellar hypoplasi... OMIM:618590
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia ORPHA:444051
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Generalized-onset seizure, Enlarged cerebellum, Brain atrophy ORPHA:85165
3-Methylglutaconic Aciduria, Type Viii
Apnea, Clonus, Tremor, Hypopnea, Seizure, Respiratory failure, Hypertonia, Dysphagia, Respiratory... OMIM:617248
Classic Phenylketonuria
Tremor, Paraplegia, Seizure, Hypertonia, Hemiplegia ORPHA:79254
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Leukodystrophy, Hypomyelinating, 10
Inability to walk, Spasticity, Babinski sign, Hyperkinetic movements OMIM:616420
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Cerebellar atrophy, Seizure, Cerebral atrophy OMIM:616266
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity... ORPHA:67036
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis... ORPHA:502423
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesi... ORPHA:309854
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypertonia, Cerebellar vermis hypoplasia, Myoclonus, Spastic tetraparesis ORPHA:284417
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spastic diplegia, Gait disturba... OMIM:300966
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Ataxia OMIM:610651
Mcleod Syndrome
Generalized-onset seizure, Chorea, Seizure, Dystonia, Impaired vibration sensation at ankles OMIM:300842
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
4Q21 Microdeletion Syndrome
Tremor, Seizure, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:238750
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Abnormal cerebellar peduncle mor... ORPHA:909
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Seizure, Hyper... ORPHA:268261
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Seizure, Ataxia ORPHA:79095
Peroxisome Biogenesis Disorder 4A (Zellweger)
Seizure, Respiratory failure OMIM:614862
Dilated Cardiomyopathy With Ataxia
Lower limb spasticity, Ataxia, Seizure, Dystonia, Neonatal hypotonia, Action tremor ORPHA:66634
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Supranuclear Palsy, Progressive, 2
Axial dystonia, Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola... OMIM:609454
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Ataxia, Tremor, Seizure, Gait imbalance, Myoclonus ORPHA:98794
Coffin-Siris Syndrome 6
Seizure, Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Hermansky-Pudlak Syndrome 10
Axial hypotonia, Bilateral tonic-clonic seizure, EEG abnormality, Generalized hypotonia, Dystonia... OMIM:617050
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting, Seizure, Abnormal repetitive mannerisms ORPHA:3306
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Fasciculations, U... ORPHA:52430
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab... OMIM:616393
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Aggressive behavior, Tremor, Seizure, Self-injurious behavior, Compulsive beh... OMIM:617061
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia ORPHA:1020
Alazami Syndrome
Abnormal eating behavior, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical... ORPHA:319671
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus ORPHA:324708
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Fatigable weakness ORPHA:257
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Ataxia, Tremor, Seizure, Gait disturbance, Oculomotor apraxia ORPHA:220493
Aicardi-Goutieres Syndrome 1
Axial hypotonia, Cerebellar calcifications, Inability to walk, Cerebral atrophy, Abnormality of e... OMIM:225750
Peho Syndrome
Cerebellar atrophy, Infantile spasms, Seizure, Atrophy/Degeneration affecting the brainstem, Cere... ORPHA:2836
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Hypoplasia of... OMIM:610688
Vacterl Association With Hydrocephalus
Respiratory failure, Respiratory insufficiency OMIM:276950
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Galloway-Mowat Syndrome 1
Cerebellar atrophy, Axial hypotonia, Ataxia, Hypotonia, Spastic tetraplegia, Cerebral atrophy, Dy... OMIM:251300
Tuberous Sclerosis Complex
Respiratory distress, Epileptic spasm, Hyperactivity, Infantile spasms, Aggressive behavior, Impu... ORPHA:805
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Hypertonia, Myoclonus OMIM:617290
Aicardi-Goutieres Syndrome 9
Axial hypotonia, Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Seizur... OMIM:619487
5Q14.3 Microdeletion Syndrome
Seizure, Abnormal repetitive mannerisms ORPHA:228384
Inhalational Botulism
Dyspnea, Paralysis ORPHA:254504
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Hypertyrosinemia, Elevated hepatic transaminase, Ataxia, Cerebral atrophy, Am... OMIM:124000
Pilarowski-Bjornsson Syndrome
Speech apraxia, Seizure, Abnormal repetitive mannerisms OMIM:617682
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Seizure, Abnormal repetitive mannerisms OMIM:613443
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Seizure, Spasticity, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Cerebellar vermis hypoplasia, Facial-lingual fasciculations, Hydroc... OMIM:617281
Joubert Syndrome 1
Hemifacial spasm, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem dysplasi... OMIM:213300
Riddle Syndrome
Ataxia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Clumsiness, Restrictive ventilatory de... ORPHA:420741
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity ORPHA:2828
Intellectual Developmental Disorder, Autosomal Recessive 71
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Recurrent pneumonia, Seizure, Tracheobronchomalacia, Abnormal repetitive mannerisms OMIM:617751
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Slc39A8-Cdg
Severe muscular hypotonia, Failure to thrive in infancy, Inability to walk, Hypsarrhythmia, Seizu... ORPHA:468699
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Apnea, Respiratory insufficiency, Seizure, Respiratory failure OMIM:608836
Joubert Syndrome 7
Ataxia, Brainstem dysplasia, Oculomotor apraxia, Hypoplasia of the brainstem, Molar tooth sign on... OMIM:611560
D-Glyceric Aciduria
Chorea, Myoclonus, Spasticity ORPHA:941
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Asthma, Clumsiness, Seizure, Compulsive behaviors, Attention deficit hyperactivity disord... OMIM:615656
Chédiak-Higashi Syndrome
Cerebellar atrophy, Elevated hepatic transaminase, Somatic sensory dysfunction, Ataxia, Parkinson... ORPHA:167
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Cerebellar atrophy, Cerebral cortical atrophy, Cerebellar hypoplasia OMIM:617763
Charcot-Marie-Tooth Disease Type 4B2
Reduced vital capacity, Decreased distal sensory nerve action potential, Tremor, Vocal cord paral... ORPHA:99956
Tick-Borne Encephalitis
Elevated hepatic transaminase, Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblo... ORPHA:297
Triosephosphate Isomerase Deficiency
Respiratory distress, Tremor, Respiratory insufficiency due to muscle weakness, Respiratory insuf... OMIM:615512
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Hypertonia, Cerebellar hypoplasia, Myoclonus, Spasticity, Dandy-Walker ... ORPHA:3078
Congenital Myopathy 15
Reduced forced vital capacity, Vocal cord paralysis OMIM:620161
Hypotonia, Ataxia, And Delayed Development Syndrome
Speech apraxia, Cerebellar atrophy, Pain insensitivity, Axial hypotonia, Ataxia, Broad-based gait... OMIM:617330
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Childhood Disintegrative Disorder
Seizure, Abnormal repetitive mannerisms ORPHA:168782
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Abnormal brainstem morphology, Ataxia ORPHA:2720
Arthrogryposis Multiplex Congenita 6
Respiratory failure OMIM:619334
Gitelman Syndrome
Salt craving, Ataxia, Paralysis, Seizure, Paresthesia, Polydipsia OMIM:263800
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Cryptorchidism, Hypoplasia of the brainstem, Muscle weakness OMIM:193700
Snijders Blok-Campeau Syndrome
Speech apraxia, Infantile spasms, Myoclonic seizure, Attention deficit hyperactivity disorder, Ab... OMIM:618205
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Severe Congenital Nemaline Myopathy
Respiratory failure, Dysphagia ORPHA:171430
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
White-Sutton Syndrome
Cerebellar atrophy, Incoordination, Hypoplasia of the pons, Seizure, Subcortical cerebral atrophy... ORPHA:468678
Juvenile Sialidosis Type 2
Lower limb spasticity, Ataxia, Dysmetria, Myoclonus, Loss of ambulation, Spasticity ORPHA:93399
Osteopetrosis, Autosomal Recessive 5
Generalized-onset seizure, Clonus, Spastic tetraplegia, Seizure, Respiratory failure, Hypertonia,... OMIM:259720
Filippi Syndrome
Hypotonia, Paraplegia, Seizure, Limb dystonia, Spasticity ORPHA:3255
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Wolfram Syndrome 1
Tremor, Seizure, Ataxia OMIM:222300
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Abnormal temper tantrums, A... ORPHA:449291
Kufor-Rakeb Syndrome
Eyelid apraxia, Oculogyric crisis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign... ORPHA:306674
Abetalipoproteinemia
Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Babinski sign, Impaired pro... ORPHA:14
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, H... ORPHA:447997
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia ORPHA:98905
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremor, Unsteady gait, A... OMIM:614947
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Tremor, Seizure, Attention deficit hyperactivity disord... OMIM:619312
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Hypertonia, Abnormal r... OMIM:618914
Nmda Receptor Encephalitis
Generalized-onset seizure, Oculogyric crisis, Involuntary movements, Rigidity, Focal-onset seizur... ORPHA:217253
Takenouchi-Kosaki Syndrome
Cerebellar atrophy, Ataxia, Seizure, Cerebellar hypoplasia, Cerebral cortical atrophy OMIM:616737
Inclusion Body Myopathy And Brain White Matter Abnormalities
Babinski sign, Fasciculations OMIM:619733
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal cerebellum morphology, Ataxia, Generalized non-motor (absence) seizure, Apraxia ORPHA:77293
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Malignant Atrophic Papulosis
Pain insensitivity, Seizure, Pleural effusion, Respiratory failure ORPHA:679
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy, Generalized hypotonia OMIM:618541
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Cerebellar vermis hypoplasia, Babinski sign, Retrocerebellar cyst, Myoclonus,... ORPHA:364028
Cri-Du-Chat Syndrome
Hyperactivity, Aggressive behavior, Abnormal respiratory system physiology, Hypertonia, Abnormal ... OMIM:123450
Hyperlysinemia
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Simple febrile seizure, Tremor, S... ORPHA:2203
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Pain insensitivity, Broad-based gait, Bilateral tonic-clonic seizure, Cerebellar vermis hypoplasi... OMIM:620330
Joubert Syndrome 2
Agenesis of cerebellar vermis, Ataxia, Brainstem dysplasia, Oculomotor apraxia, Hypoplasia of the... OMIM:608091
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Elevated circulating aspartate aminotransferase concentration, Cryptorchidism... OMIM:614866
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Tremor, Hypotonia, Cerebral atrophy, Choreoathetosis, Generalized hypotonia, ... OMIM:614080
Pyruvate Carboxylase Deficiency
Ataxia, Infantile spasms, Generalized clonic seizure, Tremor, Abnormal pyramidal sign, Hypotonia,... ORPHA:3008
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Sandhoff Disease
Exaggerated startle response, Ataxia, Impaired temperature sensation, Fasciculations, Spasticity,... OMIM:268800
Neuraminidase Deficiency
Slurred speech, Myoclonus, Dysmetria OMIM:256550
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration... OMIM:607459
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614618
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Apraxia, Cerebellar ve... OMIM:616541
Full Schwannomatosis
Hypoesthesia, Paresthesia, Fasciculations ORPHA:93921
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Hydroxykynureninuria
Hypertonia, Abnormal repetitive mannerisms, Breathing dysregulation ORPHA:79155
Schindler Disease, Type I
Spasticity, Myoclonus OMIM:609241
Mitochondrial Complex I Deficiency, Nuclear Type 1
Ataxia, Bilateral tonic-clonic seizure, Apnea, Babinski sign, Respiratory insufficiency, Respirat... OMIM:252010
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apraxia, ... OMIM:607485
Multifocal Motor Neuropathy
Fasciculations ORPHA:641
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism OMIM:616351
Benign Samaritan Congenital Myopathy
Fasciculations ORPHA:324581
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Vocal cord paresis, Positive Romberg sign, Distal sens... OMIM:601152
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Seizure, Ataxia, Dysmetria OMIM:616263
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Seizure, Tracheobronchomalacia, Recurrent pneumonia, Abnormal repetitive mannerisms ORPHA:500159
Megalocornea-Intellectual Disability Syndrome
Seizure, Abnormal repetitive mannerisms, Ataxia, EEG abnormality ORPHA:2479
Hyperekplexia 1
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls OMIM:149400
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Choreoacanthocytosis
Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased amplitude of... ORPHA:2388
Combined Oxidative Phosphorylation Deficiency 25
Hypoplasia of the pons, Cerebral atrophy, Cerebellar atrophy, Generalized hypotonia OMIM:616430
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Tremor, Fasciculations, Difficulty walking, Frequent falls ORPHA:329478
Lipoid Proteinosis
Seizure, Dystonia ORPHA:530
Boutonneuse Fever
Respiratory failure ORPHA:83313
Smith-Magenis Syndrome
Impaired pain sensation, EEG abnormality, Seizure, Self-injurious behavior, Attention deficit hyp... ORPHA:819
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, D... OMIM:612199
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Pain insensitivity, Broad-based gait, Ataxia, Hypotonia, Distal sensory impairment, Painless frac... OMIM:256810
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Alkuraya-Kucinskas Syndrome
Hypoplasia of the brainstem, Kinked brainstem, Cerebellar hypoplasia, Oculomotor apraxia, Dandy-W... OMIM:617822
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Incoordination, Impaired pain sensation, Gait ataxia, Abnormal repetitive mannerisms, Overfriendl... OMIM:616579
Blepharophimosis-Impaired Intellectual Development Syndrome
Recurrent pneumonia, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive manne... OMIM:619293
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Inability to walk, Broad-based gait, Myoclonus OMIM:616158
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Gait ataxia, Seizure, Compulsive behaviors, Attention deficit hypera... ORPHA:476126
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Seizure, Hypertonia, Hemiplegia, Pulmonary arteria... ORPHA:2396
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Clonic seizure, Hypertonia, Decreased body weight, Intention tremor, Ataxia, Overweight, ... OMIM:619475
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Epileptic spasm, Rigidity, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Status e... ORPHA:2636
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Seizure OMIM:619103
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Myopathy, Myofibrillar, 2
Fasciculations OMIM:608810
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Cerebellar vermis hypoplasia, Cryptorchidism, Cerebral atrophy, Brain atrophy OMIM:611209
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Chromosome 5P13 Duplication Syndrome
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:613174
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Pica, Seizure, Obsessive-compulsive trait, Abnormal repetitive mannerisms OMIM:617796
Nocardiosis
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... ORPHA:31204
Congenital Sialidosis Type 2
Ataxia, Hydrocephalus, Dysmetria, Myoclonus, Spasticity ORPHA:93400
Joubert Syndrome With Hepatic Defect
Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia of the cerebellum, Tremor, Seizure, Gait... ORPHA:1454
Neurogenic Arthrogryposis Multiplex Congenita
Fasciculations ORPHA:1143
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Seizure, Abnormality of extrapyramidal motor function, Dystonia ORPHA:79233
Listeriosis
Respiratory distress, Somatic sensory dysfunction, Ataxia, Pneumonia, Tremor, Hemiparesis, Seizur... ORPHA:533
Pyridoxal Phosphate-Responsive Seizures
Unsteady gait, Hypertonia, Myoclonus ORPHA:79096
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity, Ataxia, Abnormal pyramidal sign, Abnormality of extrapyr... ORPHA:51188
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Neonatal respiratory distress, Impaired pain sensation, EEG abnormality, Seizure, Attention defic... OMIM:619005
Fucosidosis
Spastic tetraplegia, Hypotonia, Seizure, Dystonia, Hemiplegia, Failure to thrive, Spastic gait OMIM:230000
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus ORPHA:289266
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Seizure, Typical absence seizure, Impaired pain sensation ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Seizure, Typical absence seizure, Impaired pain sensation ORPHA:352665
Congenital Disorder Of Glycosylation, Type Iie
Cerebellar atrophy, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elev... OMIM:608779
Developmental And Epileptic Encephalopathy 101
Myoclonus, Opisthotonus OMIM:619814
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Myoclonus OMIM:560000
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Seizure, Cerebral cortical atrophy, Gait ataxia OMIM:617011
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Hypotonia, Tetr... OMIM:615846
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Ataxia, Inability to walk, Hypotonia, Seizure, Dystonia, Failure to thrive OMIM:620083
Fatal Familial Insomnia
Ataxia, Myoclonus OMIM:600072
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory insufficiency, Tetraplegia, Seizure, Respiratory failure, Myoclonus OMIM:618278
22Q11.2 Duplication Syndrome
Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive beh... ORPHA:1727
Rheumatic Fever
Hemiballismus, Chorea, Gait disturbance, Fasciculations ORPHA:3099
Glossopharyngeal Neuralgia
Dysesthesia, Seizure, Vocal cord paralysis, Oral-pharyngeal dysphagia ORPHA:221098
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypotonia, Dystonia OMIM:614105
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Brain stem compression, Elevated circulating alkaline phosphatase concentration, Tet... OMIM:602080
Galloway-Mowat Syndrome 3
Cerebellar atrophy, Seizure, Spasticity, Cerebral atrophy OMIM:617729
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Respiratory failure, Chylothorax, Dysphagia OMIM:620278
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis, Abnormality ... ORPHA:79102
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Diffuse cerebral atrophy, Abnormality of extrapyramidal motor funct... ORPHA:79255
Amyotrophy, Monomelic
Fasciculations OMIM:602440
Alpha-Mannosidosis, Infantile Form
Cerebellar atrophy, Facial hypotonia, Ataxia, Spastic paraplegia, Hypotonia, Clumsiness, Subcorti... ORPHA:309282
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Seizure, Periodic paralysis ORPHA:37553
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Dystonia, Unsteady gait, Choreoathetosis, Seizure, Hypertonia, Hyperkinetic movements, Myoclonus,... ORPHA:17
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
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Abnormal pyramidal s... ORPHA:468631
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Involuntary movements, Clonus, Opisthotonus, Myoclonus OMIM:620352
Vici Syndrome
Seizure, Abnormal posturing, Dysphagia OMIM:242840
Meningioma
Hemifacial spasm, Abnormal central motor function, Hypogonadotropic hypogonadism, Ataxia, Facial ... ORPHA:2495
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Cerebellar atrophy, Tremor, Partial absence of cerebellar vermis, Patent ductus arteriosus, Gener... ORPHA:280633
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Rigidity, Myoclonus OMIM:300673
Pediatric-Onset Graves Disease
Tremor, Hyperkinetic movements ORPHA:525731
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Hypsarrhythmia, Respiratory failure, Upper limb spasticity, Generalized my... OMIM:300868
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology,... ORPHA:68
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Bilateral tonic-clonic seizure with generalized onset, Generali... ORPHA:2072
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Seizure, Abnormal temper tantrums, Abnormal repetitive mannerisms ORPHA:457279
Kleefstra Syndrome 1
Aggressive behavior, Seizure, Compulsive behaviors, Tracheobronchomalacia, Abnormal repetitive ma... OMIM:610253
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Neonatal hypotonia, Seizure, Dystonia ORPHA:457193
Orofaciodigital Syndrome Type 3
Cerebellar vermis hypoplasia, Myoclonus, Oculomotor apraxia, Spasticity, Dandy-Walker malformation ORPHA:2752
Trichothiodystrophy
Generalized-onset seizure, Abnormal pyramidal sign, Gait ataxia, Hypertonia, Intention tremor, Sp... ORPHA:33364
Mitochondrial Dna Depletion Syndrome 19
Spasticity, Myoclonus, Tetraparesis OMIM:618972
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Tremor, Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:612474
Sandhoff Disease, Infantile Form
Exaggerated startle response, Myoclonus, Spasticity ORPHA:309155
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Chiari malformation, Cerebell... ORPHA:500150
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, ... OMIM:615273
Familial Cerebral Saccular Aneurysm
Hemiparesis, Oculomotor nerve palsy, Abnormal brainstem morphology ORPHA:231160
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Dysphagia, Hypoxemia, Respiratory ... ORPHA:2020
Pitt-Hopkins Syndrome
Incoordination, Intermittent hyperventilation, Gait ataxia, Seizure, Self-injurious behavior, Abn... OMIM:610954
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Seizure, Hypertonia, Abnormal repetitive mannerisms, Self-mutilation, Stereo... OMIM:212066
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest ORPHA:3342
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Hypogonadotropic hypogonadism, Shyness, Unilateral vocal cord paralysis, Cere... OMIM:301030
Cockayne Syndrome A
Cerebellar atrophy, Ataxia, Tremor, Cryptorchidism, Irregular menstruation, Cerebral atrophy, Hyp... OMIM:216400
Helsmoortel-Van Der Aa Syndrome
Seizure, Typical absence seizure, Tonic seizure OMIM:615873
Blepharonasofacial Malformation Syndrome
Torsion dystonia ORPHA:1252
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... ORPHA:365
Wilson Disease
Dystonia, Poor motor coordination, Tremor, Rigidity, Hypoesthesia, Decreased nerve conduction vel... OMIM:277900
2Q37 Microdeletion Syndrome
Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Tracheomalacia, Abnormal... ORPHA:1001
Rift Valley Fever
Anorexia, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity ORPHA:319251
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Lower limb spasticity, Axial hypotonia, Dystonia, Ataxia, Cerebral palsy, Focal-onset seizure, Sp... OMIM:619950
Lathosterolosis
Seizure, Chiari malformation, Myoclonus, Cerebellar cortical atrophy ORPHA:46059
D-Glyceric Aciduria
Spastic tetraplegia, Spasticity, Myoclonus, Opisthotonus OMIM:220120
Phelan-Mcdermid Syndrome
Impaired pain sensation, Aggressive behavior, Tongue thrusting, Seizure, Bruxism, Abnormal repeti... OMIM:606232
Cockayne Syndrome
Cerebellar atrophy, Elevated hepatic transaminase, Somatic sensory dysfunction, Ataxia, Action tr... ORPHA:191
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Hypoglycemic seizures, Self-injurious behavior, Focal impaire... OMIM:616364
Mucopolysaccharidosis, Type Iiid
Cerebellar atrophy, Seizure, Difficulty walking OMIM:252940
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Tremor, Hemiplegia/hemiparesis, Abno... ORPHA:51
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Seizure, Corpus callosum atrophy, Bilateral tonic-clonic seizure OMIM:261515
Gabriele-De Vries Syndrome
Waddling gait, Facial hypotonia, Tremor, Hypotonia, Tip-toe gait, Dystonia OMIM:617557
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis ORPHA:94080
Foxg1 Syndrome Due To 14Q12 Microdeletion
Seizure, Abnormal repetitive mannerisms ORPHA:261144
Monosomy 18P
Generalized dystonia, Hypotonia ORPHA:1598
Sialuria
Hyperkinetic movements ORPHA:3166
Dyskeratosis Congenita, Autosomal Recessive 8
Cerebellar atrophy OMIM:620133
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, Cough, Pleur... ORPHA:340
Cystinosis
Abnormal repetitive mannerisms, Polydipsia, Abnormal pyramidal sign ORPHA:213
Kleefstra Syndrome
Aggressive behavior, Dyspnea, Seizure, Self-injurious behavior, Tracheomalacia, Abnormal repetiti... ORPHA:261494
Sotos Syndrome
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tremor, Poor coordination, Generali... ORPHA:821
Dpagt1-Cdg
Epileptic spasm, Ataxia, Akinesia, Tremor, Inability to walk, Abnormal cerebellum morphology, Foc... ORPHA:86309
Whipple Disease
Hydrocephalus, Abnormal pyramidal sign, Myoclonus, Ataxia ORPHA:3452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Full Nf2-Related Schwannomatosis
Somatic sensory dysfunction, Facial palsy, Abnormal cerebellum morphology, Unsteady gait, Hemipar... ORPHA:637
Mogs-Cdg
Seizure, Dystonia, Absent brainstem auditory responses, Infantile muscular hypotonia ORPHA:79330
Holoprosencephaly 14
Cerebellar atrophy, Partial absence of cerebellar vermis, Bilateral tonic-clonic seizure, Dandy-W... OMIM:619895
Myhre Syndrome
Seizure, Respiratory failure, Ataxia, Respiratory insufficiency OMIM:139210
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the brainstem... ORPHA:444072
Neuroblastoma, Susceptibility To, 1
Ataxia, Myoclonus OMIM:256700
Immunodeficiency 23
Somatic sensory dysfunction, Ataxia, Myoclonus, Cortical myoclonus OMIM:615816
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Focal-onset seizure, Typical absence seizure, Atonic seizure OMIM:617157
Mitochondrial Complex I Deficiency, Nuclear Type 32
Seizure, Respiratory failure OMIM:618252
Serotonin Syndrome
Clonus, Tremor, Rigidity, Hypertonia, Myoclonus ORPHA:43116
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Seizure, Respiratory failure, Cough, Emphysema OMIM:613658
Knobloch Syndrome 1
Cerebellar atrophy, Ataxia, Cerebral atrophy, Myoclonic seizure, Seizure OMIM:267750
Chromosome 18P Deletion Syndrome
Small for gestational age, Hypotonia, Dystonia OMIM:146390
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Spasticity, Myoclonus OMIM:612949
9Q33.3Q34.11 Microdeletion Syndrome
Spastic tetraparesis, Inability to walk, Cryptorchidism, Patent ductus arteriosus, Cerebellar ver... ORPHA:495818
Gitelman Syndrome
Respiratory distress, Salt craving, Paralysis, Focal-onset seizure, Paresthesia, Polydipsia ORPHA:358
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cryptorchidism, Hypoplasia of the brainstem, Cerebellar hypoplasia, Kinked brainstem, Cerebellar ... OMIM:236670
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus ORPHA:168593
Postpoliomyelitis Syndrome
Fasciculations ORPHA:2942
African Trypanosomiasis
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Paralysis, T... ORPHA:3385
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
Developmental Malformations-Deafness-Dystonia Syndrome
Generalized dystonia ORPHA:79107
Microcephaly-Capillary Malformation Syndrome
Myoclonus, Spastic tetraparesis OMIM:614261
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Generalized-onset seizure, Ataxia, Small for gestational age, Tremor, Hypotonia, Dysmetria, Trunc... OMIM:220111
Hyperphosphatasia-Intellectual Disability Syndrome
Oculomotor apraxia, Ataxia, Myoclonus, Gait disturbance ORPHA:247262
Bainbridge-Ropers Syndrome
Seizure, Self-injurious behavior, Hypertonia, Recurrent hand flapping, Abnormal repetitive manner... OMIM:615485
Bloom Syndrome
Rhinitis, Chronic pulmonary obstruction, Pneumonia, Respiratory failure ORPHA:125
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens... ORPHA:261537
Distal Renal Tubular Acidosis
Respiratory insufficiency due to muscle weakness, Polydipsia, Paralysis ORPHA:18
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Oral-pharyngeal dysphagia, Respiratory insuff... ORPHA:273
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Seizure, Respiratory failure ORPHA:79404
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Aggressive behavior, Polyphagia, Dysmetria, Seizure, Self-injurious... ORPHA:96121
Mowat-Wilson Syndrome
Broad-based gait, Agenesis of cerebellar vermis, Ataxia, Cerebellar vermis hypoplasia, Impaired p... ORPHA:2152
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
X-Linked Emery-Dreifuss Muscular Dystrophy
Respiratory insufficiency due to muscle weakness, Vocal cord paralysis ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Respiratory insufficiency due to muscle weakness, Vocal cord paralysis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Respiratory insufficiency due to muscle weakness, Vocal cord paralysis ORPHA:98853
Arima Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ... OMIM:243910
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Myoclonus OMIM:246450
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Scorpion Envenomation
Hemifacial spasm, Ataxia, Tremor, Hyperkinetic movements, Paresthesia, Myoclonus ORPHA:466677
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Multifocal seizures, Aggressive behavior, EEG with central focal ... OMIM:301066
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Head-banging, Seizure, Compulsive behaviors, Attention deficit hyperactivit... ORPHA:177907
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Spastic tetraparesis, Foca... OMIM:301044
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cryptorchidism, Patent ductus arteriosus, Abnormal brainstem morphology, Gait disturbance, Cerebr... ORPHA:464311
Alg9-Cdg
Cerebellar atrophy, Lower limb spasticity, Torticollis, Hypotonia, Cerebral atrophy ORPHA:79328
Opsoclonus-Myoclonus Syndrome
Rigidity, Limb myoclonus, Ataxia, Myoclonus ORPHA:1183
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Myoclonus OMIM:614462
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Generalized-onset seizure, Recurrent pneumonia, Opisthotonus, Seizure, Hypertonia, Abnormal repet... ORPHA:508533
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Limb dystonia, Cerebellar atrophy, Babinski sign, Hemiparesis, Tetraparesis, Dystonia, Hemiplegia... OMIM:175780
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized myoclonic... OMIM:614756
Nijmegen Breakage Syndrome
Respiratory failure, Recurrent pneumonia, Attention deficit hyperactivity disorder ORPHA:647
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Seizure, Respiratory failure, Status epilepticus ORPHA:2556
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Head-banging, Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder, Frequen... OMIM:619575
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens... ORPHA:261552
Arthrogryposis Multiplex Congenita 5
Akinesia, Hand tremor, Hypertonia, Generalized hypotonia, Dystonia OMIM:618947
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Skin Creases, Congenital Symmetric Circumferential, 1
Cerebellar vermis atrophy, Hypotonia, Dandy-Walker malformation OMIM:156610
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Olivopontocerebellar hypoplasia, Fatigable weakness of skeletal muscles, H... ORPHA:284339
Rauch-Steindl Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ataxia, Spastic tetraplegia, Distal sensory impairment, Myoclonus, Spastic parapares... OMIM:609136
Holoprosencephaly
Chorea, Hypotonia, Dystonia, Aplasia/Hypoplasia of the cerebellum, Spasticity, Dandy-Walker malfo... ORPHA:2162
Fabry Disease
Paresthesia, Fasciculations OMIM:301500
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Cerebellar atrophy, Seizure, Dandy-Walker malformation, Cerebellar dysplasia ORPHA:487796
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Pineoblastoma
Seizure, Paralysis ORPHA:251909
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Abnormal repetitive mannerisms, Seizure, Spasticity, Bilateral tonic-clonic seizure OMIM:301040
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Self-injurious b... OMIM:619512
Mucopolysaccharidosis Type 2
Hyperactivity, Impulsivity, Aggressive behavior, Decreased nerve conduction velocity, Upper airwa... ORPHA:580
3-Hydroxy-3-Methylglutaric Aciduria
Spasticity, Ataxia, Myoclonus, Spastic hemiparesis ORPHA:20
Semilobar Holoprosencephaly
Limb dystonia, Abnormal central motor function, Inability to walk, Oromotor apraxia, Seizure, Inf... ORPHA:220386
Alobar Holoprosencephaly
Limb dystonia, Abnormal central motor function, Inability to walk, Oromotor apraxia, Seizure, Inf... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Limb dystonia, Abnormal central motor function, Inability to walk, Oromotor apraxia, Seizure, Inf... ORPHA:93926
Lobar Holoprosencephaly
Limb dystonia, Abnormal central motor function, Inability to walk, Oromotor apraxia, Seizure, Inf... ORPHA:93924
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Myoclonus ORPHA:251004
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Respiratory failure, Polydipsia ORPHA:731
9P13 Microdeletion Syndrome
Myoclonus, Hand tremor ORPHA:324313
Orofaciodigital Syndrome Type 1
Tremor, Seizure, Ataxia, Dystonia ORPHA:2750
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Seizure, Respiratory failure, Pulmonary arterial hypertension, Restrictive ventilatory defect ORPHA:96334
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Exaggerated startle response, Dystonia, Broad-based gait, Involuntary movements,... ORPHA:438213
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Patent ductus arteriosus, Chiari ty... OMIM:270400
Arboleda-Tham Syndrome
Axial hypotonia, Hypotonia, Seizure, Lower limb hypertonia, Gait imbalance, Generalized hypotonia... OMIM:616268
Fraser Syndrome 2
Respiratory failure OMIM:617666
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Cerebellar atrophy, Hypotonia, Generalized hypotonia OMIM:210730
Melas
Abnormal central motor function, Ataxia, Hemiparesis, Gait disturbance, Myoclonus ORPHA:550
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Seizure, Dysphagia, Abnormal repetitive mannerisms ORPHA:319182
Pgm3-Cdg
Ataxia, Myoclonus, Cortical myoclonus ORPHA:443811
Costello Syndrome
Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency OMIM:218040
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Vocal cord paralysis ORPHA:276621
Ethylene Glycol Poisoning
Slurred speech, Ataxia, Myoclonus ORPHA:31826
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Myoclonus ORPHA:314655
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Asthm... ORPHA:353281
Neuroleptic Malignant Syndrome
Tremor, Chorea, Extrapyramidal muscular rigidity, Oculogyric crisis ORPHA:94093
Woodhouse-Sakati Syndrome
Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia OMIM:241080
Monosomy 22Q13.3
Seizure, Cerebellar cortical atrophy, Impaired pain sensation ORPHA:48652
Oculocerebrorenal Syndrome Of Lowe
Clonus, Respiratory insufficiency, Seizure, Self-injurious behavior, EEG abnormality, Attention d... ORPHA:534
Farber Disease
Paraparesis, Spasticity, Myoclonus ORPHA:333
Gabriele-De Vries Syndrome
Waddling gait, Facial hypotonia, Small for gestational age, Tremor, Hypotonia, Dystonia ORPHA:506358
Orofaciodigital Syndrome Iii
Myoclonus OMIM:258850
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Spastic tetraplegia, Clonus, Myoclonus OMIM:619055
Schinzel-Giedion Syndrome
Respiratory distress, Epileptic spasm, Recurrent pneumonia, Vocal cord paralysis, Hypsarrhythmia,... ORPHA:798
Ogden Syndrome
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Apnea, Pulmonary arterial... OMIM:300855
Legius Syndrome
Chiari type I malformation, Hypotonia, Dystonia ORPHA:137605
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Myoclonic spasms ORPHA:73224
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Abnormal r... ORPHA:464306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Hydrocephalus, Myoclonus, Cerebellar hypoplasia, Spasticity, Cerebellar cyst OMIM:253280
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Myoclonus ORPHA:1352
Igg4-Related Thyroid Disease
Vocal cord paralysis, Dysphagia ORPHA:64744
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Vocal cord paralysis ORPHA:29072
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Poor coordination, Spastic diplegia, Seizure, Abnormal repetitive mannerisms OMIM:309590
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Asthm... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Asthm... ORPHA:353277
Heterotaxy, Visceral, 5, Autosomal
Cerebellar atrophy, Patent ductus arteriosus, Cerebellar hypoplasia, Cerebral atrophy OMIM:270100
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Cerebellar dysplasia OMIM:601374
Tsh-Secreting Pituitary Adenoma
Tremor, Seizure, Periodic hypokalemic paresis ORPHA:91347
1P36 Deletion Syndrome
Hemiplegia/hemiparesis, Polyphagia, Self-injurious behavior, Seizure, EEG abnormality, Dysphagia,... ORPHA:1606
X-Linked Intellectual Disability, Snyder Type
Inability to walk, Unsteady gait, Myoclonus, Involuntary movements ORPHA:3063
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Degcags Syndrome
Pneumonia, Oral-pharyngeal dysphagia, Asthma, Vocal cord paralysis, Rhinitis, Choking episodes, T... OMIM:619488
Woodhouse-Sakati Syndrome
Choreoathetosis, Dystonia ORPHA:3464
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Decreased testicular size, Cerebellar cortical atrophy OMIM:619321
Norrie Disease
Clonus, Seizure, EEG abnormality, Hypertonia, Self-injurious behavior, Attention deficit hyperact... ORPHA:649
Duplication Of The Pituitary Gland
Lower limb spasticity, Abnormal midbrain morphology ORPHA:314621
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
Achondroplasia
Brain stem compression OMIM:100800
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Respiratory insufficiency OMIM:304120
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Abnormal midbrain morphology, Impaired social interactions, Impair... ORPHA:293987
Osteogenesis Imperfecta
Somatic sensory dysfunction, Ataxia, Brain stem compression, Gait disturbance, Paresthesia, Tetra... ORPHA:666
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms ORPHA:508498
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms OMIM:618653
Cancer-Associated Retinopathy
Diffuse cerebellar atrophy, Testicular neoplasm ORPHA:71505
Alström Syndrome
Somatic sensory dysfunction, Incoordination, Ataxia, Typical absence seizure, Poor fine motor coo... ORPHA:64
Primrose Syndrome
Restlessness, Ataxia, Aggressive behavior, Seizure, Self-injurious behavior, Tics, Attention defi... OMIM:259050
Autosomal Recessive Cutis Laxa Type 1
Dystonia ORPHA:90349
Wolf-Hirschhorn Syndrome
Seizure, Abnormal repetitive mannerisms, EEG abnormality OMIM:194190
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Seizure, Abnormal repetitive mannerisms OMIM:616682
Neutral Lipid Storage Myopathy
Fasciculations, Difficulty walking ORPHA:98908
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Seizure, Attention deficit hyperactivity disorder, Dysphagia, Abnor... OMIM:619522
Lowe Oculocerebrorenal Syndrome
Seizure, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Coffin-Siris Syndrome 12
Seizure, Abnormal repetitive mannerisms OMIM:619325
Feingold Syndrome 1
Vocal cord paralysis OMIM:164280
Doors Syndrome
Small cerebellar cortex, Spina bifida occulta, Myoclonus, Dandy-Walker malformation ORPHA:79500
Williams-Beuren Syndrome
Incoordination, Poor coordination, Vocal cord paralysis, Attention deficit hyperactivity disorder... OMIM:194050
Crimean-Congo Hemorrhagic Fever
Fasciculations ORPHA:99827

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 Cacna1a

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 Cacna1a.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
CaV 2.1 α1  subunit motifs that control presynaptic CaV 2.1 subtype abundance are distinct from CaV 2.1 preference. The Journal of physiology (December 2023) Cacna1atm1c(EUCOMM)Hmgu Cacna1atm1a(EUCOMM)Hmgu 38155373

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cacna1aem1(IMPC)H Exon Deletion Mice
Cacna1atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cacna1atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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