Gene Summary

Name:
potassium inwardly-rectifying channel, subfamily J, member 6
Synonyms:
GIRK2,  KCNJ7,  Kir3.2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
decreased anxiety-related response Kcnj6em1(IMPC)H HOM Early adult 1.36×10-08
impaired righting response Kcnj6em1(IMPC)H HOM Early adult 3.49×10-08
increased circulating triglyceride level Kcnj6em1(IMPC)H HOM   Early adult 7.16×10-05
increased exploration in new environment Kcnj6em1(IMPC)H HOM Early adult 6.98×10-05
increased circulating alanine transaminase level Kcnj6em1(IMPC)H HOM   Early adult 4.65×10-05
hyperactivity Kcnj6em1(IMPC)H HOM Early adult 7.96×10-16
decreased neutrophil cell number Kcnj6em1(IMPC)H HOM   Early adult 4.50×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kcnj6 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 Kcnj6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Keppen-Lubinsky Syndrome
Spastic tetraparesis, Failure to thrive, Hypertonia OMIM:614098
Keppen-Lubinsky Syndrome
Spastic tetraparesis, Hypertonia, Decreased testicular size, Opisthotonus ORPHA:435628

The table below shows human diseases predicted to be associated to Kcnj6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619964
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensory seizure... OMIM:615400
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 26
Acephalic spermatozoa, Infertility OMIM:617961
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Epilepsy, Familial Temporal Lobe, 8
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... OMIM:616461
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Generalized hypotonia, Cerebellar hypoplasia, Tremor, Hypotonia OMIM:213000
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Focal-onset seizure OMIM:117100
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... OMIM:254770
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Developmental And Epileptic Encephalopathy 9
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... OMIM:300088
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... ORPHA:399805
Spinocerebellar Ataxia 11
Cerebellar atrophy OMIM:604432
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Developmental And Epileptic Encephalopathy 104
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... OMIM:619970
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormal cerebellum morphology, Ataxia, Myoclonus, Parkinsonism, Myoclonic seizure, Bilateral ton... OMIM:162350
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Bilateral tonic-clonic seizure, Seizure OMIM:615127
Spinocerebellar Ataxia Type 5
Cerebellar atrophy ORPHA:98766
Spinocerebellar Ataxia 41
Cerebellar atrophy OMIM:616410
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... OMIM:600669
Spinocerebellar Ataxia Type 32
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Cerebellar atrophy, Azoospermia ORPHA:276183
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... OMIM:604403
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604233
Spinocerebellar Ataxia 32
Infertility, Ataxia, Testicular atrophy, Cerebellar atrophy, Azoospermia OMIM:613909
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... OMIM:616172
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Myoclonic Epilepsy, Familial Infantile
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:605021
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:613863
Spinocerebellar Ataxia 37
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy, Dysphagia OMIM:615945
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... ORPHA:280397
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Cerebellar hypoplasia, Tremor, Spastici... OMIM:615768
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Spinocerebellar Ataxia 43
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... OMIM:617018
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Gait disturbance, Choreoathetosi... OMIM:616230
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... ORPHA:98798
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Episodic Ataxia, Type 9
Status epilepticus, Clonic seizure, Tonic seizure, Cerebellar edema, Bilateral tonic-clonic seizu... OMIM:618924
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617643
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... OMIM:611726
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:613060
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... ORPHA:330050
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Bila... OMIM:300423
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Epilepsy, Familial Temporal Lobe, 2
Focal impaired awareness seizure, Focal aware seizure, Febrile status epilepticus, Febrile seizur... OMIM:608096
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia OMIM:615041
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
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Pachygyria OMIM:614173
Spinocerebellar Ataxia 30
Cerebellar atrophy OMIM:613371
Epilepsy, Familial Temporal Lobe, 6
Status epilepticus, Focal impaired awareness seizure, Focal aware seizure, Bilateral tonic-clonic... OMIM:615697
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy ORPHA:217012
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Myoclonus, Rigidity, Hyperkinetic movements, Chorea, Gait disturbance, ... OMIM:616981
Hyperlysinemia, Type I
Anemia, Hyperlysinemia, Hyperactivity, Cognitive impairment OMIM:238700
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy ORPHA:211017
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Bilateral ... OMIM:618093
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Febrile seizure... OMIM:615369
Perioral Myoclonia With Absences
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:139426
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Babinski sign, Frequent falls, Impaired distal vibration sensation, Spasticity, Cerebella... OMIM:619742
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia, Premature ovarian insufficiency OMIM:615889
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy OMIM:605388
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... ORPHA:306
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Atonic seizure, Dysmetria, Myoclonic seizure, Cerebellar hypoplasia, Tremor, G... OMIM:617810
Chudley-Mccullough Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyria OMIM:604213
Autosomal Recessive Spastic Paraplegia Type 32
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Babinski sign, Progres... ORPHA:171622
Juvenile Absence Epilepsy
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... ORPHA:1941
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Dysmetria, Generalized myoclonic seizure, Rigidity, Gait distur... OMIM:618090
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Generalized hypotonia, Trun... ORPHA:94122
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Autosomal Dominant Epilepsy With Auditory Features
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Bilater... ORPHA:101046
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617769
Developmental And Epileptic Encephalopathy 98
Clonic seizure, Poor eye contact, Bilateral tonic-clonic seizure with focal onset, Refractory sta... OMIM:619605
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dys... ORPHA:101010
Dravet Syndrome
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, G... OMIM:607208
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Mental deterioration, Hypertriglyceridemia, Tremor, Dystonia OMIM:615924
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Appendicular hypotonia, Ataxia, Inability to walk, Cerebellar atrophy, Hypotonia OMIM:619333
Gordon Holmes Syndrome
Infertility, Ataxia, Hypogonadotropic hypogonadism, Oligomenorrhea, Cerebellar atrophy OMIM:212840
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy, Seizure OMIM:141500
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age range of 3... OMIM:615871
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy OMIM:615268
X-Linked Intellectual Disability, Hedera Type
Action tremor, Inability to walk, Atonic seizure, Extrapyramidal muscular rigidity, Dysmetria, Ba... ORPHA:93952
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, Clumsiness, Focal impaired awareness seizure, Cerebellar atrophy OMIM:610003
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor, Cerebellar atrophy, Seizure OMIM:616187
Cerebellar Ataxia And Albinism
Ataxia, Head tremor, Olivopontocerebellar atrophy OMIM:258300
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Clonic seizure, Generalized myoclonic seizure OMIM:266100
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Abnormal cerebellum morphology, Ataxia, Myoclonus, Babinski sign, Tremor, Cerebellar atrophy, Sei... OMIM:615362
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... ORPHA:363710
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Inability to walk, Clonic seizure, Tonic seizure, Stereotypical hand wringing, ... OMIM:618917
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral tonic-clonic sei... OMIM:617836
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Bilateral ton... OMIM:617831
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:245570
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Morbid Obesity And Spermatogenic Failure
Infertility, Increased LDL cholesterol concentration, Oligospermia, Decreased HDL cholesterol con... OMIM:615703
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Dystonia With Cerebellar Atrophy
Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia, Cerebellar atrophy, Dysphagia,... OMIM:611694
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Hypoplasia of the pons, Cerebellar hypoplasia, Infantile spasms, Myoclonic seizure, B... OMIM:619301
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Infantile Cerebellar-Retinal Degeneration
Failure to thrive, Ataxia, Decreased body weight, Athetosis, Bilateral tonic-clonic seizure, Cere... OMIM:614559
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... ORPHA:284332
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Tremor, Cerebellar atrophy, Seizure OMIM:617862
Spinocerebellar Ataxia 38
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:615957
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Spastic ataxia, Dysmetria, Spastic paraparesis, Generalized myoclonic seizure, Myoclonus,... OMIM:614487
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Seizure OMIM:616409
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... OMIM:607682
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure OMIM:601217
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... OMIM:601764
Developmental And Epileptic Encephalopathy 13
Clonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure with foca... OMIM:614558
Spinocerebellar Ataxia 31
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:117210
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait, Cerebellar atrophy, Hypotonia OMIM:617917
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, Clumsiness, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... ORPHA:1947
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity, Cerebellar atrophy, Seizure OMIM:613402
Epilepsy, Familial Focal, With Variable Foci 4
Clonic seizure, Focal impaired awareness seizure, Simple febrile seizure, Bilateral tonic-clonic ... OMIM:617935
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617133
Developmental And Epileptic Encephalopathy 34
Status epilepticus, Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Fo... OMIM:616645
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... ORPHA:65683
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Hyperactivity, Generalized myoclonic seizure, Hyperkinetic movements,... OMIM:271980
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor symptoms, F... OMIM:204300
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Neonatal hypotonia, Intention tremor, Cerebellar atrophy OMIM:302500
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Hydrocephalus, Infantile spasms, Cerebellar hypoplasia, Myoclonic seizure, Bilateral ... OMIM:619302
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Status epilepticus wit... ORPHA:363549
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Dysmetria, Spastic paraparesis, Generalized myoclonic seizure, Myoclonus, Dysdiadochokine... ORPHA:313772
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Ce... ORPHA:314978
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... ORPHA:725
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum, Tre... ORPHA:79262
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Clumsiness, Dysmetria, Intention tremor, Generalized hypotonia, Gait ataxia, Spasticity, ... OMIM:608029
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Cerebellar vermis hypoplasia, Cerebellar atrophy, ... OMIM:618876
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Hypergonadotropic hypogonadism, Dysdiadochokinesis, Abnormal pyra... OMIM:617145
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... ORPHA:101039
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Hypertonia, Ataxia, Cerebellar atrophy, Seizure, Dysphagia, Upper limb spasticity, Lower limb spa... OMIM:613925
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-cl... OMIM:617113
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, Generalized myoclonic seizure, Cerebellar atrophy, Seizure OMIM:614706
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Delayed menarche,... ORPHA:52901
Progressive Myoclonic Epilepsy Type 3
Progressive cerebellar ataxia, Myoclonus, Limb myoclonus, Febrile seizure (within the age range o... ORPHA:263516
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... OMIM:607745
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Poor eye contact, Bilateral tonic-clonic seizure, Spastic tetraplegia, Cerebel... OMIM:618237
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia OMIM:608898
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Generalized hypotonia, Cerebellar hypoplasia, Tremor, Gait ataxia... OMIM:213200
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Seizure OMIM:612016
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Developmental And Epileptic Encephalopathy 27
Myoclonus, Infantile spasms, Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure, ... OMIM:616139
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Status epilepticus, Dysmetria, Cerebellar hypoplasia, Tremor, Difficulty walking, Gait ataxia, Bi... ORPHA:529665
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Limb ataxia, Babinski sign, Gait ataxia, Spasticity, Cerebellar atrophy, Seizure OMIM:614322
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Cerebellar... OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 15
Ataxia, Gait ataxia, Unsteady gait, Cerebellar atrophy, Seizure OMIM:615705
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... ORPHA:2382
Spinocerebellar Ataxia Type 14
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Generalized hyp... ORPHA:98763
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Abnormal cerebellum morphology, Myoclonus, Parkinsonism, Bilateral tonic-clon... OMIM:204200
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, Cerebellar hypoplasia, Bilateral tonic-clonic seizure, Gait ataxia, Cerebellar at... ORPHA:488635
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Dysmetria, Babinski sign, Truncal ataxia, Cerebellar hypoplasia OMIM:617584
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Cerebellar atrophy, Progressive gait ataxia OMIM:607458
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seiz... ORPHA:101071
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure ORPHA:163721
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Hand tremor, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... ORPHA:98764
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Cerebellar atrophy OMIM:615596
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... OMIM:610245
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Cerebellar hypoplasia, Hypogonadism, Dystonia, Central hypothyroidism OMIM:616113
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Spinocerebellar Ataxia Type 12
Abnormal cerebellum morphology, Ataxia, Action tremor, Poor fine motor coordination, Bradykinesia... ORPHA:98762
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Hypogonadism OMIM:312910
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Atonic seizure, Seizure OMIM:309530
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Leukodystrophy, Hypomyelinating, 21
Ataxia, Hypogonadotropic hypogonadism, Athetosis, Tetraparesis, Cerebellar atrophy, Cryptorchidis... OMIM:619310
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance, Cerebellar at... OMIM:210000
Ceroid Lipofuscinosis, Neuronal, 8
Myoclonus, Ataxia, Cerebellar atrophy, Seizure OMIM:600143
Juvenile Huntington Disease
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Hyperactivity... ORPHA:248111
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Dysmetria, Myoclonus, Tremor, Cere... OMIM:619028
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Ataxia, Cerebellar vermis atrophy, Multifocal seizures, Dysmetria, Intention tremor, Babinski sig... OMIM:618170
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure, Cerebellar atrophy OMIM:608278
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Appendicular hypotonia, Ataxia, Clumsiness, Dysmetria, Limb ataxia, Intention t... OMIM:616127
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Mental deteriorati... OMIM:607616
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle... OMIM:270500
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Ataxia, Inability to walk, Poor eye contact, Hypoplasia of the pons, Tetrapare... OMIM:618276
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Cerebellar atrophy, Steppage gait OMIM:618387
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Dysmetria, Gait ataxia, At... OMIM:605361
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... OMIM:618587
47,Xyy Syndrome
Increased serum testosterone level, Hydrocephalus, Neonatal hypotonia, Cryptorchidism, Micropenis... ORPHA:8
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypopl... OMIM:616531
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Cere... OMIM:616948
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:254800
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... OMIM:611302
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Cere... ORPHA:71517
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy OMIM:616291
Folate Malabsorption, Hereditary
Ataxia, Irritability, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia, Folate-responsive meg... OMIM:229050
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Pontocerebellar atrophy, Dysd... ORPHA:423275
Familial Focal Epilepsy With Variable Foci
Focal impaired awareness seizure, Deja vu aura, Focal aware seizure, Nocturnal seizures, Infantil... ORPHA:98820
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Generali... OMIM:614018
Spinocerebellar Ataxia 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Pontocerebellar atrophy, Dysd... OMIM:616053
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Spinocerebellar Ataxia, Autosomal Recessive 29
Ataxia, Cerebellar vermis atrophy, Inability to walk, Cerebellar atrophy, Seizure, Lower limb spa... OMIM:619389
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Gait d... OMIM:614561
Spinocerebellar Ataxia Type 21
Akinesia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia... ORPHA:98773
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... OMIM:614831
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:79137
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Aggressive behavior OMIM:618010
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Cerebellar a... OMIM:617435
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Infertility, Impaired vibration sensation at ankles, Ataxia, Reduced sperm moti... ORPHA:320391
Familial Infantile Myoclonic Epilepsy
Ataxia, Clumsiness, Blepharospasm, Bilateral tonic-clonic seizure with generalized onset, General... ORPHA:352582
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... ORPHA:521406
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Lissencephaly 10
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilate... OMIM:618873
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure OMIM:612621
Myoclonic Epilepsy Of Infancy
Generalized myoclonic seizure, Myoclonus, Febrile seizure (within the age range of 3 months to 6 ... ORPHA:86909
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Typical absence seizure, Abnormal cerebellum morphology, Bilateral tonic-clonic s... ORPHA:101070
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Trimethylaminuria
Depression, Anemia, Neutropenia, Splenomegaly OMIM:602079
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal... OMIM:619157
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... OMIM:619606
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Hyperkinetic movements, Gait disturbance, Tremor, Bilateral tonic-clonic seizur... ORPHA:457240
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Intention tremor, Freq... ORPHA:512260
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... OMIM:613728
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Myoclonus, Febrile seizure (within the age ran... OMIM:613855
Autosomal Recessive Spastic Paraplegia Type 67
Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Difficulty walking, Progressive spast... ORPHA:401820
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Impaired vibration sensation at ankles, ... OMIM:616795
Neurodegeneration With Brain Iron Accumulation 7
Loss of ambulation, Ataxia, Dysmetria, Spasticity, Cerebellar atrophy, Dysphagia OMIM:617916
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Se... ORPHA:139485
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... OMIM:604326
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly OMIM:619175
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... ORPHA:79263
Joubert Syndrome 25
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Leukodystrophy, Hypomyelinating, 11
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity, Cerebellar atrophy OMIM:616494
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal pons morphology, Abnormal cerebellum morphology, Ataxia, Progressive cerebellar ataxia, ... ORPHA:98
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Spastic tetraplegia, Cerebella... OMIM:618730
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Mitochondrial Complex I Deficiency, Nuclear Type 12
Choreoathetosis, Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, Cer... OMIM:301020
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure, Dyst... OMIM:618425
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Ataxia-Telangiectasia-Like Disorder
Ataxia, Dysmetria, Intention tremor, Hypergonadotropic hypogonadism, Dysdiadochokinesis, Myoclonu... ORPHA:251347
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Abnormal pyramidal sign, Babi... OMIM:617225
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Hypergonadotropic hypogonadism, Intention tremor, Head tremor, Azoospermia OMIM:613724
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy, Dysphagia OMIM:618369
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Ataxia, Pontocerebellar atrophy, Abnormal pyramidal sign, Generalized hypotonia, Cerebellar hypop... OMIM:618060
Spinocerebellar Ataxia 46
Dysmetria, Limb ataxia, Positive Romberg sign, Gait ataxia, Cerebellar atrophy OMIM:617770
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Landau-Kleffner Syndrome
Atypical absence seizure, Focal motor seizure, Bilateral tonic-clonic seizure with generalized on... ORPHA:98818
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Cognitive impairment, Depression, Anxiety, Inappropriate behavior, Chorea, Memory impairm... ORPHA:401901
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Olivopontocerebellar atrophy, Chorea, Tr... OMIM:164500
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysmetria, Dysdiadochokinesis, Truncal ataxia, Cerebellar hypoplasia, Tremor, Aplasia of the infe... OMIM:610185
Late Infantile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Typical absence seizure, Ataxia, Cortical myoclonus, Hyperactivity, Inability t... ORPHA:168491
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Ataxia, Myoclonus, Cerebellar hypoplasia, Epileptic spasm, Attention deficit h... OMIM:619971
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Broad-based gait, Dysmetria, Intention tremor, Dysdiadochokinesis, Generalized hypotonia, Truncal... OMIM:224050
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonic absence seizure OMIM:619000
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Abnormal cerebellar vermis morphology, Rigidity, Cerebellar hypoplasia, Tremo... ORPHA:33445
Foxg1 Syndrome
Motor stereotypy, Status epilepticus, Inability to walk, Decreased body weight, Poor eye contact,... ORPHA:561854
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Yoon-Bellen Neurodevelopmental Syndrome
Status epilepticus, Failure to thrive, Ataxia, Inability to walk, Infantile spasms, Generalized m... OMIM:619701
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Atonic seizure, Hyperactivity, Focal impaired awareness seizure, Generalized myoclonic se... ORPHA:382
Boucher-Neuhauser Syndrome
Ataxia, Spinocerebellar atrophy, Intention tremor, Hypogonadotropic hypogonadism, Gait ataxia, Sp... OMIM:215470
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Decreased body weight, Abnormality of extrapyramidal motor function, Abnormal pyramidal s... OMIM:617672
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity, Cerebellar at... OMIM:616719
Spastic Paraplegia, Ataxia, And Mental Retardation
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... OMIM:607565
Spastic Paraplegia 30, Autosomal Dominant
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Cerebellar atrophy, Spastic g... OMIM:610357
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Neutropenia, Dysmetria, Impaired vibration sensation in the lower lim... OMIM:159550
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:618856
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... OMIM:616516
Intellectual Developmental Disorder, Autosomal Recessive 44
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:615942
Crome Syndrome
Renal tubular epithelial necrosis, Cerebellar dysplasia OMIM:218900
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Cerebellar atrophy, Unsteady gait, Dysphagia ORPHA:284271
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:208441
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Cerebellar atrophy, Seizure, Dystonia OMIM:612438
Perrault Syndrome 1
Ataxia, Intention tremor, Spastic diplegia, Primary amenorrhea, Gonadal dysgenesis, Gait ataxia, ... OMIM:233400
Spinocerebellar Ataxia, Autosomal Recessive 26
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... OMIM:617633
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Generalized-onset seizure, Cerebellar at... OMIM:254900
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizu... ORPHA:36387
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Gait ataxia, Inability to walk, Cerebellar atrophy OMIM:617915
Cln5 Disease
Ataxia, Poor gross motor coordination, Hyperactivity, Clumsiness, Dysmetria, Inability to walk, D... ORPHA:228360
Leukoencephalopathy with metaphyseal chondrodysplasia
Gait disturbance, Tremor, Babinski sign, Spastic paraplegia OMIM:300660
Migraine, Familial Hemiplegic, 2
Hemiplegia, Focal motor seizure, Dysmetria, Hemiparesis, Tremor, Gait ataxia, Bilateral tonic-clo... OMIM:602481
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Loss of ambulation, Dysmetria, Hypogonadotropic hypogonadism, Babinski sign, Tremor, Spas... OMIM:607694
Fatty Acid Hydroxylase-Associated Neurodegeneration
Loss of ambulation, Cerebellar vermis atrophy, Progressive spastic quadriplegia, Progressive extr... ORPHA:329308
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Axial hypotonia ORPHA:494526
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Focal hemiclonic seizure, Tonic seizure, Myoclonus, ... OMIM:619317
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Parkinsonism, Rigidit... OMIM:605407
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Chorea, Separation ... ORPHA:66624
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Posi... OMIM:607136
Sulfite Oxidase Deficiency, Isolated
Hemiplegia, Hypertonia, Ataxia, Cerebellar hypoplasia, Choreoathetosis, Bilateral tonic-clonic se... OMIM:272300
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spinocerebellar Ataxia 5
Dysmetria, Limb ataxia, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis, Gener... OMIM:600224
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Somatic sensory dysfunction, Gait ataxia,... OMIM:619862
Myoclonus-Dystonia Syndrome
Torticollis, Depression, Anxiety, Panic attack, Writer's cramp, Personality disorder, Dystonia ORPHA:36899
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Ataxia, Difficulty walking, Cerebellar atrophy, Premature ovarian insufficiency OMIM:619425
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Ataxia, Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity... OMIM:308700
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Dysmetria, Myoclonus, Dysdiadochokinesis, Cerebellar atrophy, Seizure OMIM:256731
Developmental And Epileptic Encephalopathy 44
Failure to thrive, Poor eye contact, Athetosis, Spasticity, Cerebellar atrophy, Seizure, Dystonia OMIM:617132
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Rare Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Seizure ORPHA:101685
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Atrophy of the dentate nucleus, Dystonia OMIM:125370
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Axial hypot... OMIM:616921
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar dyspl... OMIM:615960
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Cerebell... OMIM:619738
4H Leukodystrophy
Ataxia, Dysmetria, Hypogonadotropic hypogonadism, Dysdiadochokinesis, Tremor, Cerebellar atrophy,... ORPHA:289494
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Inability to walk, Spasticity, Cerebellar atrophy, Seizure, Dysphagia OMIM:617086
Spinocerebellar Ataxia 21
Akinesia, Ataxia, Progressive cerebellar ataxia, Limb ataxia, Intention tremor, Parkinsonism, Cog... OMIM:607454
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Glutathione Synthetase Deficiency
Intention tremor, Ataxia, Hemolytic anemia, Neutropenia OMIM:266130
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Dysmetria, Hand tremor, Tip-toe gait, Babinski sign, Distal sensory impairment, Freq... OMIM:302800
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Infantile muscular hypotonia, Dysmetria, Intention tremor, Nonprogressive cerebellar ... ORPHA:453521
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Dysmetria, Choreoathetosis, Spasticity, Cerebellar atrophy, Seizure, Dysphagia, Dystonia OMIM:618088
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... ORPHA:284324
Developmental And Epileptic Encephalopathy 102
Focal motor status epilepticus, Tonic seizure, Generalized myoclonic seizure, Bilateral tonic-clo... OMIM:619881
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia 29
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Dysm... OMIM:117360
Spinocerebellar Ataxia, Autosomal Recessive 18
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... OMIM:616204
Multiple Mitochondrial Dysfunctions Syndrome 6
Failure to thrive, Ataxia, Dysmetria, Spasticity, Cerebellar atrophy, Seizure, Dystonia OMIM:617954
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased testic... OMIM:229070
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Distal sensory impairment, Cerebellar atrophy, Seizure, Steppage gait OMIM:607250
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Gait disturbance, Bilateral toni... ORPHA:100988
Neurodegeneration With Brain Iron Accumulation
Rigidity, Chorea, Spasticity, Cerebellar atrophy, Dystonia, Abnormality of extrapyramidal motor f... ORPHA:385
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Ataxia, Inability to walk, Recurrent hand flapping, Focal impaired awareness se... OMIM:619580
Pyridoxine-Dependent Epilepsy
Status epilepticus, Atonic seizure, Early onset absence seizures, Focal aware motor seizure, Epil... ORPHA:3006
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Chorea, Athetosis, Dementia OMIM:615483
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Spastic Paraplegia 46, Autosomal Recessive
Infertility, Upper limb spasticity, Impaired vibration sensation in the lower limbs, Upper limb d... OMIM:614409
Huntington Disease
Bradykinesia, Rigidity, Chorea, Gait ataxia, Cerebellar atrophy, Seizure OMIM:143100
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Parkinsonism, Myo... ORPHA:79264
48,Xxyy Syndrome
Motor stereotypy, Infertility, Ataxia, Type II diabetes mellitus, Hypoplasia of penis, Hypergonad... ORPHA:10
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Ataxia With Vitamin E Deficiency
Ataxia, Progressive cerebellar ataxia, Dysmetria, Increased LDL cholesterol concentration, Dysdia... OMIM:277460
Gabriele-De Vries Syndrome
Waddling gait, Tremor, Cryptorchidism, Dystonia OMIM:617557
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Cerebe... OMIM:609270
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... ORPHA:397946
Spinocerebellar Ataxia Type 29
Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, ... ORPHA:208513
Spinocerebellar Ataxia, Autosomal Recessive 23
Ataxia, Hyponatremia, Neutropenia OMIM:616949
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia OMIM:245900
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Tremor, Gait ataxia, Spas... ORPHA:1170
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... ORPHA:251282
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Status epilepticus, Loss of ambulation, Ataxia, Clumsiness, Poor eye contact, Hypergonadotropic h... OMIM:271245
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:250972