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Gene: Kcnj6 MGI:104781

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Gene Summary

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

Order Alleles

IMPC Data Collections

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
hyperactivity Kcnj6em1(IMPC)H HOM Early adult 1.06×10-15
increased circulating amylase level Kcnj6em1(IMPC)H HOM Early adult 8.18×10-06
increased exploration in new environment Kcnj6em1(IMPC)H HOM Early adult 6.63×10-05
decreased neutrophil cell number Kcnj6em1(IMPC)H HOM   Early adult 4.50×10-05
decreased anxiety-related response Kcnj6em1(IMPC)H HOM Early adult 1.60×10-08
impaired righting response Kcnj6em1(IMPC)H HOM Early adult 3.49×10-08

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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
Decreased testicular size, Opisthotonus, Spastic tetraparesis, Hypertonia ORPHA:435628
Keppen-Lubinsky Syndrome
Spastic tetraparesis, Failure to thrive, Decreased serum leptin, Hypertonia, Opisthotonus OMIM:614098

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
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:619177
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... ORPHA:529970
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awareness seizure, Visually-i... OMIM:614417
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... OMIM:600512
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
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 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal aware sensory seizure with a... OMIM:616461
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Infantile spasms OMIM:619964
Epilepsy, Familial Temporal Lobe, 3
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal impaired awareness seizure OMIM:611630
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus ORPHA:22
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Rigidity, Delayed speech and language development,... OMIM:618090
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
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
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Generalized hypotonia, Ataxia, Hypotonia, Tremor OMIM:213000
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Focal-onset seizure OMIM:117100
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
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
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609253
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... ORPHA:399805
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto... OMIM:254770
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Attention defi... ORPHA:280397
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor, Cerebellar atrophy OMIM:616187
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spinocerebellar Ataxia 37
Ataxia, Tremor, Frequent falls, Dysphagia, Cerebellar atrophy, Unsteady gait OMIM:615945
Spinocerebellar Ataxia Type 5
Cerebellar atrophy ORPHA:98766
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic se... OMIM:615006
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Gait ataxia, Hand tremor, Absent speech, Bilateral tonic-clonic seizure, Dysphagia, Cerebellar at... OMIM:617862
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Abnormal cerebellum morphology, Seizure, Parkinsonism, Abnormality of extrapyr... OMIM:162350
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility, Cerebellar atrophy, Progressive cerebellar ataxia ORPHA:276183
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... OMIM:616685
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... OMIM:300088
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Ataxia, Testicular atrophy, Cerebellar atrophy OMIM:613909
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Truncal ataxia, Generalized m... OMIM:611726
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
Epilepsy, Progressive Myoclonic, 8
Falls, Truncal ataxia, Delayed speech and language development, Myoclonus, Choreoathetosis, Limb ... OMIM:616230
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613863
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Status epilepticus OMIM:613721
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... ORPHA:98798
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Seizure, Inability to walk, Focal-onset seizure, Oculogyric crisis, Generalized myoclonic seizure... ORPHA:330050
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, Lower limb spast... OMIM:614322
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:616172
Spinocerebellar Ataxia 43
Gait ataxia, Cerebellar vermis atrophy, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory imp... OMIM:617018
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Hypogonadism, Cerebellar hypoplasia, Truncal ataxia, Limb ataxia, Babin... OMIM:615768
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Seizure, Parkinsonism, Rigidity, Apraxia, Delayed speech and language developm... OMIM:300423
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy OMIM:616410
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Myoclonus, Focal impaired awareness seizure, Bilatera... OMIM:615400
Developmental And Epileptic Encephalopathy 37
Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Absent speech, Focal ... OMIM:616981
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure OMIM:613722
Migraine, Familial Hemiplegic, 1
Seizure, Hemiparesis, Ataxia, Agitation, Hemiplegia, Tremor, Cerebellar atrophy OMIM:141500
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Seizure OMIM:615127
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spinocerebellar Ataxia Type 38
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking, Cerebellar atrophy ORPHA:423296
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Impaired distal proprioception, Spasticity, Impaired distal vibration sensation, Seizure, Spastic... OMIM:619742
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Cerebellar atrophy,... OMIM:610003
Developmental And Epileptic Encephalopathy 104
Seizure, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness ... OMIM:619970
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Focal impaired a... OMIM:607745
Spinocerebellar Ataxia 45
Cerebellar atrophy OMIM:617769
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Seizure OMIM:614499
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Seizure, Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonu... OMIM:615362
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... OMIM:613060
Spinocerebellar Ataxia 30
Cerebellar atrophy OMIM:613371
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... OMIM:618357
Mitochondrial Complex I Deficiency, Nuclear Type 12
Gait imbalance, Seizure, Delayed speech and language development, Myoclonus, Choreoathetosis, Gen... OMIM:301020
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal aware seizure, Bilateral ton... OMIM:608096
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor, Cerebellar atrophy, Impaired vibratory sensation ORPHA:217012
Episodic Ataxia, Type 9
Seizure, Status epilepticus, Episodic ataxia, Clonic seizure, Tonic seizure, Bilateral tonic-clon... OMIM:618924
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... OMIM:615697
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Elevated circulating follicle stimul... OMIM:620103
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen... OMIM:617924
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Atonic seizure, ... OMIM:616056
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetria, Tremor, Bilateral ... OMIM:618093
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Glycosylphosphatidylinositol Biosynthesis Defect 15
Gait ataxia, Myoclonic seizure, Spasticity, Inability to walk, Cerebellar hypoplasia, Apraxia, De... OMIM:617810
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy ORPHA:211017
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Clonic seizure, Absent spee... OMIM:619605
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Sta... OMIM:615369
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy OMIM:605388
Spermatogenic Failure 2
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia OMIM:108420
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Impaired vibration sensation in the lower limbs, Cerebellar corti... ORPHA:171622
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy, Delayed speech and language development, Bilateral tonic-clonic seizure with ... OMIM:617643
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
X-Linked Intellectual Disability, Hedera Type
Echolalia, Inability to walk, Apraxia, Delayed speech and language development, Gait disturbance,... ORPHA:93952
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... ORPHA:101010
Chudley-Mccullough Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:604213
Polymicrogyria, Bilateral Temporooccipital
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Focal impaired awareness sei... OMIM:612691
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Developmental And Epileptic Encephalopathy 67
Generalized myoclonic seizure, Gait disturbance, Focal hemiclonic seizure, Tonic seizure, Bilater... OMIM:618141
Dystonia 11, Myoclonic
Anxiety, Writer's cramp, Torticollis, Tremor, Depression, Panic attack, Agoraphobia, Alcoholism OMIM:159900
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon... ORPHA:1941
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Appendicular hypotonia, Ataxia, Hypotonia, Cerebellar atrophy OMIM:619333
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... ORPHA:101046
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
Dravet Syndrome
Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure... OMIM:607208
Cerebellar Ataxia, Cayman Type
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Generalized hypotonia, Broad-based gait, Inte... ORPHA:94122
Developmental Delay And Seizures With Or Without Movement Abnormalities
Rigidity, Delayed speech and language development, Generalized myoclonic seizure, Ataxia, Bilater... OMIM:617836
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy OMIM:615268
Neurodevelopmental Disorder With Involuntary Movements
Chorea, Spasticity, Dysphagia, Absent speech, Bilateral tonic-clonic seizure, Cerebellar atrophy,... OMIM:617493
Cerebellar Ataxia, Cayman Type
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Broad-based gait, Hypotonia, Intention tremor OMIM:601238
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... ORPHA:306
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... OMIM:616053
Developmental And Epileptic Encephalopathy 53
Myoclonic seizure, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Convulsive status epil... OMIM:617389
Dystonia With Cerebellar Atrophy
Torticollis, Craniofacial dystonia, Dysphagia, Cerebellar atrophy, Progressive cerebellar ataxia,... OMIM:611694
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cerebellar vermis atrophy, Falls, Dysdiadochokinesis, Truncal ataxia... ORPHA:363710
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Gait ataxia, Chorea, Spasticity, Febrile seizure (within the age range of 3 months to 6 years), I... OMIM:618917
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Seizure, Delayed speech and language development, Upper limb spasticity, Ataxia, Cerebellar atrop... OMIM:613925
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic... OMIM:618396
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Epilepsy, Progressive Myoclonic, 11
Seizure, Rigidity, Delayed speech and language development, Myoclonus, Ataxia, Cerebellar atrophy... OMIM:618876
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Seizure, Delayed speech and language development, Generalized myoclonic seizure, S... OMIM:271980
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
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Hyperactivity, Seizure, Ataxia OMIM:613402
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Spastic tetraplegia, Cerebellar hypoplasia, Focal-onset seizure, Absent speech... OMIM:619301
Epilepsy, Pyridoxine-Dependent
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Clonic seizure OMIM:266100
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Dysphagia, Cerebellar atroph... OMIM:302500
Developmental And Epileptic Encephalopathy 24
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... OMIM:615871
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Bilateral tonic-clonic seizure, Myoclonus, Focal hemifacial clonic seizure, Focal motor seizure OMIM:608105
Developmental And Epileptic Encephalopathy 47
Inability to walk, Focal-onset seizure, Gait disturbance, Limb ataxia, Agitation, Ataxia, Absent ... OMIM:617166
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia, Increased LDL cholesterol concentration, Decreased HDL ch... OMIM:615703
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Torticollis, Myoclonus, Ataxia, Babins... OMIM:607317
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... OMIM:601764
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Impulsivity, Lower limb spasticity, C... OMIM:619028
Chromosome 15Q11-Q13 Duplication Syndrome
Echolalia, Seizure, Impaired social interactions, Truncal ataxia, Delayed speech and language dev... OMIM:608636
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal-onset seizure, Bilateral tonic-cl... OMIM:245570
Neurodegeneration With Brain Iron Accumulation 8
Delayed speech and language development, Ataxia, Dysmetria, Tremor, Loss of ambulation, Cerebella... OMIM:617917
Spinocerebellar Ataxia 38
Gait ataxia, Cerebellar vermis atrophy, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Cerebellar vermis atrophy, Progressive gait ataxia, Clumsiness, Delayed speech and la... ORPHA:284332
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu... OMIM:620115
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus, Generalized myoclo... OMIM:614487
Spinocerebellar Ataxia, Autosomal Recessive 15
Gait ataxia, Seizure, Delayed speech and language development, Ataxia, Cerebellar atrophy, Unstea... OMIM:615705
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal-onset seizure, Status epilepticus... OMIM:616645
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar hypoplasia, Truncal ataxia, Clumsiness, Spastic dysarthria, Generalized neonatal hypot... ORPHA:314978
Myoclonic Epilepsy, Familial Infantile
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset seizure, Gene... OMIM:605021
Infantile Cerebellar-Retinal Degeneration
Decreased body weight, Focal-onset seizure, Ataxia, Failure to thrive, Bilateral tonic-clonic sei... OMIM:614559
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Isolated Focal Cortical Dysplasia
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Seizure, Focal-onset ... ORPHA:65683
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:613608
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Gait imbalance, Seizure, Cerebellar hypoplasia, Delayed speech and language developm... ORPHA:488635
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Focal ... OMIM:617831
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, Delayed speech and language development, Myoclonus, Ataxia, Cerebellar atrophy OMIM:600143
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Cerebellar atrophy, Limb ataxia, Spastic gait OMIM:617133
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... OMIM:607682
Unilateral Hemispheric Polymicrogyria
Focal-onset seizure, Generalized myoclonic seizure, Focal atonic seizure, Bilateral tonic-clonic ... ORPHA:101071
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Developmental And Epileptic Encephalopathy 13
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... OMIM:614558
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Spasticity, Abnormal pyramidal sign, Seizure, Clumsiness, A... ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... OMIM:204300
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Dysdiadochokinesis, Cerebellar hypoplasia, Spastic dysarthria, Oculomotor apraxia, My... ORPHA:313772
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Lissencephaly 3
Generalized tonic seizure, Seizure, Spastic tetraplegia, Ataxia, Bilateral tonic-clonic seizure, ... OMIM:611603
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Generalized myoclonic seizure, Seizure, Ataxia OMIM:614706
Nescav Syndrome
Spasticity, Cerebellar vermis atrophy, Seizure, Inability to walk, Appendicular spasticity, Delay... OMIM:614255
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Spastic tetraplegia, Cerebellar hypoplasia, Focal-onset seizure, Hydrocephalus... OMIM:619302
Sandhoff Disease, Adult Form
Gait ataxia, Anxiety, Elevated circulating creatine kinase concentration, Focal dystonia, Tremor,... ORPHA:309169
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... OMIM:617145
Epilepsy, Progressive Myoclonic, 9
Myoclonus, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Act... OMIM:616540
Kohlschutter-Tonz Syndrome
Myoclonic seizure, Spasticity, Seizure, Cerebellar hypoplasia, Focal-onset seizure, Delayed speec... OMIM:226750
Neurodegeneration With Brain Iron Accumulation 7
Delayed speech and language development, Ataxia, Dysmetria, Tremor, Loss of ambulation, Lower lim... OMIM:617916
Dystonia 23
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Gait disturbance, Head tremor, Axial dysto... OMIM:614860
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Bilateral tonic-clonic seizure, Complex febrile seizure, Status epilepticus without prominent mot... ORPHA:363549
Juvenile Huntington Disease
Gait ataxia, Chorea, Hyperactivity, Cerebellar vermis atrophy, Seizure, Weight loss, Rigidity, My... ORPHA:248111
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Spasticity, Clumsiness, Generalized hypotonia, Ataxia, Dysmetria, Hypotonia, Cerebel... OMIM:608029
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Infantile spasms, Atypical abs... OMIM:617113
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Seizure, Choreoathetosis, Ataxia, Babinski sign, Absent speech, Positive Romberg sign... OMIM:618088
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Gait ataxia, Spasticity, Seizure, Cerebellar hypoplasia, Oculomotor apraxia, Delayed speech and l... ORPHA:529665
Continuous Spikes And Waves During Sleep
Typical absence seizure, Seizure, Focal motor seizure, Focal-onset seizure, Focal aware seizure, ... ORPHA:725
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, My... ORPHA:263516
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar vermis atrophy, Seizure, Inability to walk, Ataxia, Absent speech, Lower limb spastici... OMIM:619389
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Status epilepticus OMIM:617171
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Spinocerebellar Ataxia, Autosomal Recessive 13
Gait ataxia, Retrocerebellar cyst, Dilated fourth ventricle, Abnormal pyramidal sign, Seizure, Dy... OMIM:614831
Spinocerebellar Ataxia Type 27
Gait ataxia, Akinesia, Truncal ataxia, Gait disturbance, Limb ataxia, Hand tremor, Tremor, Diffic... ORPHA:98764
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Infantile spasms, Epilepti... OMIM:616139
Lopes-Maciel-Rodan Syndrome
Spasticity, Ankle clonus, Abnormal pyramidal sign, Cerebellar vermis atrophy, Seizure, Agitation,... OMIM:617435
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou... ORPHA:261529
Spinocerebellar Ataxia Type 14
Gait ataxia, Somatic sensory dysfunction, Cerebellar vermis atrophy, Rigidity, Myoclonus, General... ORPHA:98763
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar atrophy OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive 25
Cerebellar hypoplasia, Truncal ataxia, Ataxia, Babinski sign, Dysmetria OMIM:617584
Epilepsy, Familial Focal, With Variable Foci 4
Focal-onset seizure, Clonic seizure, Simple febrile seizure, Bilateral tonic-clonic seizure, Foca... OMIM:617935
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... OMIM:617350
Spinocerebellar Ataxia 23
Gait ataxia, Impaired distal proprioception, Impaired vibration sensation in the lower limbs, Lim... OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Cerebellar hypoplas... OMIM:213200
Gordon Holmes Syndrome
Primary amenorrhea, Chorea, Secondary amenorrhea, Ataxia, Hypogonadotropic hypogonadism, Absence ... OMIM:212840
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Seizure, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Craniofacial dyst... ORPHA:71517
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Abnormal cerebe... ORPHA:98762
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Epileptic spasm OMIM:616409
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Myoclonus, Generalized myoclonic seizure, Bilater... ORPHA:2382
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypogonadism, Cerebellar hypoplasia, Ataxia, Dystonia OMIM:616113
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Landau-Kleffner Syndrome
Generalized clonic seizure, Focal impaired awareness seizure, Frequent falls, Steppage gait, Spee... ORPHA:98818
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Dysmetria, Focal dystonia, Attention deficit... OMIM:605361
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased female libido, Decreased testicular size,... ORPHA:52901
Ceroid Lipofuscinosis, Neuronal, 3
Abnormal cerebellum morphology, Seizure, Parkinsonism, Abnormality of extrapyramidal motor functi... OMIM:204200
Bilateral Frontoparietal Polymicrogyria
Abnormal pyramidal sign, Gait imbalance, Cerebellar dysplasia, Abnormal cerebellum morphology, Se... ORPHA:101070
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor, Hypogonadism OMIM:312910
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:101039
Developmental And Epileptic Encephalopathy 109
Gait ataxia, Myoclonic seizure, Spasticity, Hyperactivity, Typical absence seizure, Crouch gait, ... OMIM:620145
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Cerebellar atr... OMIM:616948
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly, Depression OMIM:602079
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure ORPHA:163721
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Blepharospasm, Seizure, Focal-onset seizure, Clumsiness, Delayed speech and langu... ORPHA:352582
47,Xyy Syndrome
Macroorchidism, Cerebellar dysplasia, Increased serum testosterone level, Dysgenesis of the cereb... ORPHA:8
Spinocerebellar Ataxia Type 21
Gait ataxia, Cerebellar vermis atrophy, Akinesia, Rigidity, Abnormality of extrapyramidal motor f... ORPHA:98773
Spinocerebellar Ataxia Type 35
Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul... ORPHA:276193
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Head titubation, Frequ... OMIM:611302
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar vermis atrophy, Seizure, Ataxia, Babinski sign, Dysmetria, Bilateral tonic-clonic seiz... OMIM:618170
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor, Cerebellar atrophy OMIM:616291
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Pontocerebella... ORPHA:423275
Spinocerebellar Ataxia, Autosomal Recessive 17
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Appendicular ... OMIM:616127
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Spasticity, Generalized-onset seizure, Seizure, Myoclonic s... ORPHA:79263
Folate Malabsorption, Hereditary
Leukopenia, Neutropenia, Ataxia, Athetosis, Thrombocytopenia, Irritability, Folate-responsive meg... OMIM:229050
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... OMIM:614561
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Myoclonus, Generalized myoclonic-atonic seizure, Bilateral... OMIM:618587
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure OMIM:254800
Autosomal Recessive Spastic Paraplegia Type 46
Impaired vibration sensation at ankles, Abnormal pyramidal sign, Decreased testicular size, Trunc... ORPHA:320391
Epilepsy, Progressive Myoclonic, 12
Anxiety, Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Depression, Mental deterior... OMIM:619191
Leukodystrophy, Hypomyelinating, 21
Ataxia, Hypogonadotropic hypogonadism, Tetraparesis, Cryptorchidism, Cerebellar atrophy, Athetosi... OMIM:619310
Developmental And Epileptic Encephalopathy 59
Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness sei... OMIM:617904
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Atonic seizure, Seizure OMIM:309530
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Inappropriate behavior, Cognitive impairment, Ataxia, Tremor, Dystonia, Depression, Anxie... ORPHA:401901
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar ataxia associated with quadrupedal gait, Gait ataxia, Seizure, Dysdiadochokinesis, Cer... OMIM:224050
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Atonic seizure, Generali... OMIM:614018
Mitochondrial Complex I Deficiency, Nuclear Type 15
Spastic tetraplegia, Failure to thrive, Bilateral tonic-clonic seizure, Cerebellar atrophy, Dystonia OMIM:618237
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Delayed speech and language development, Torticollis, Ataxia, Bilateral tonic-clonic seiz... OMIM:618425
Young Syndrome
Azoospermia OMIM:279000
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Loss of ambulation, ... ORPHA:521406
Familial Focal Epilepsy With Variable Foci
Focal-onset seizure, Deja vu aura, Focal aware seizure, Simple febrile seizure, Bilateral tonic-c... ORPHA:98820
Mast Syndrome
Dysdiadochokinesis, Apraxia, Gait disturbance, Incoordination, Babinski sign, Spastic paraplegia,... OMIM:248900
Spinocerebellar Ataxia 42
Impaired vibration sensation at ankles, Abnormal pyramidal sign, Spastic ataxia, Loss of Purkinje... OMIM:616795
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Ataxia, Dysmetria, Tremor, Steppage gait, Cerebellar atrophy, Distal sensory impairment OMIM:618387
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Chorea, Spasticity, Abnormal pyramidal sign, Decreased body weight, Seizure, Inability to walk, P... OMIM:617672
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar hypopl... OMIM:616531
Peho-Like Syndrome
Myoclonus, Status epilepticus, Absent speech, Bilateral tonic-clonic seizure, Cerebellar atrophy OMIM:617507
Schizophrenia 15
Hyperactivity OMIM:613950
Sulfite Oxidase Deficiency, Isolated
Cerebellar hypoplasia, Choreoathetosis, Hemiplegia, Ataxia, Agitation, Absent speech, Bilateral t... OMIM:272300
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:79137
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Cerebellar hypoplasia, Truncal ataxia, Atrophy of the dentate nucleus, Delaye... OMIM:610185
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Autosomal Dominant Cerebellar Ataxia
Somatic sensory dysfunction, Akinesia, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuro... ORPHA:99
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Babinski sign, Aplasia/Hypoplasia of the cerebellar... ORPHA:401820
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:616950
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Abnormal pyramidal sign, Generalized tonic seizure, Seizure, Myoclo... OMIM:612016
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Gait ataxia, Spasticity, Abnormal pyramidal sign, Impotence, Abnormal cerebellum morphology, Impa... ORPHA:98
Lissencephaly 10
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... OMIM:618873
Aminoacylase 1 Deficiency
Cerebellar atrophy, Hyperactivity, Seizure, Bilateral tonic-clonic seizure OMIM:609924
Spinocerebellar Ataxia, Autosomal Recessive 14
Gait ataxia, Spasticity, Dysdiadochokinesis, Delayed speech and language development, Dysmetria, ... OMIM:615386
Spinocerebellar Ataxia 19
Gait ataxia, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwheel rigidity, Dysphagi... OMIM:607346
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Cerebellar atrophy, Intention tremor, Fascic... OMIM:613728
Spinocerebellar Ataxia 11
Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Progressive cerebel... OMIM:604432
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Seizure, Myoclonus, Tremor, Cerebellar atrophy, Progressive cerebellar a... ORPHA:139485
Spinocerebellar Ataxia 7
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... OMIM:164500
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity, Cognitive impairment, Anemia OMIM:238700
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Cerebell... OMIM:604326
Cln5 Disease
Spasticity, Hyperactivity, Generalized-onset seizure, Seizure, Dysdiadochokinesis, Inability to w... ORPHA:228360
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Joubert Syndrome 25
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia OMIM:616781
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Focal-onset seizure, Status epilepticus, Focal hemiclonic seizure, Tonic seizur... OMIM:619606
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Seizure, Spastic tetraplegia, Cerebellar hypoplasia, Myoclonus, Ataxia, Attent... OMIM:619971
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Seizure, Delayed speech and language development, Upper limb spasticity, Ga... ORPHA:457240
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Ataxia, Failure to thrive, Tremor, Cerebellar atrophy OMIM:616494
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety OMIM:619031
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Seizure, Spastic tetraplegia, Hypertonia, Cerebellar atrophy, Bilateral tonic-clonic seizure with... OMIM:618730
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Ataxia-Pancytopenia Syndrome
Impaired vibration sensation in the lower limbs, Acute myelomonocytic leukemia, Anemia, Pancytope... OMIM:159550
Episodic Ataxia, Type 5
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Myoclonus... OMIM:613855
Spastic Paraplegia 78, Autosomal Recessive
Gait ataxia, Abnormal pyramidal sign, Falls, Spastic tetraplegia, Resting tremor, Parkinsonism, I... OMIM:617225
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia OMIM:234500
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Abnormal pyramidal sign, Dense calcifications in the cerebellar dentate nucleus, Seizure,... OMIM:213600
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Intention tremor OMIM:613724
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Gait disturbance, Limb ataxia, Ataxia, Dysphagia, Cerebellar atrophy, Unsteady gait ORPHA:284271
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Seizure, Postural tremor, Progressive gait ataxia, Clumsiness, Oculomotor apraxia, Limb ataxia, B... ORPHA:284324
Ceroid Lipofuscinosis, Neuronal, 5
Seizure, Dysdiadochokinesis, Clumsiness, Myoclonus, Ataxia, Dysmetria, Loss of ambulation, Limb t... OMIM:256731
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Spasticity, Seizure, Inability to walk, Absent speech, Dysphagia, Cerebellar atrophy, Epileptic s... OMIM:617086
Developmental And Epileptic Encephalopathy 23
Myoclonus, Absent speech, Tonic seizure, Hypoplasia of the pons, Atonic seizure, Focal impaired a... OMIM:615859
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-... OMIM:619157
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Gait ataxia, Poor fine motor coordination, Febrile seizure (within the age range of 3 months to 6... ORPHA:512260
Guanidinoacetate Methyltransferase Deficiency
Chorea, Hyperactivity, Seizure, Abnormality of extrapyramidal motor function, Generalized myoclon... ORPHA:382
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Ataxia-Telangiectasia-Like Disorder
Gait ataxia, Dilated fourth ventricle, Chorea, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus,... ORPHA:251347
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Myo... ORPHA:86909
Behr Syndrome
Cerebellar vermis atrophy, Progressive spasticity, Truncal ataxia, Gait disturbance, Ataxia, Babi... OMIM:210000
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Seizure, Inability to walk, Cerebellar hypoplasia, Delayed speech and language development, Ataxi... OMIM:619556
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure OMIM:612621
Spastic Paraplegia, Ataxia, And Mental Retardation
Impaired vibration sensation in the lower limbs, Ankle clonus, Spastic gait, Ataxia, Babinski sig... OMIM:607565
Chorea, Benign Hereditary
Chorea, Dementia, Anxiety OMIM:118700
Huntington Disease-Like 2
Chorea, Inertia, Apathy, Dementia, Dystonia, Action tremor, Depression, Anxiety, Subcortical deme... OMIM:606438
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Sandhoff Disease, Juvenile Form
Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Gait disturbance,... ORPHA:309162
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Cortical myoclonus, Spasticity, Hyperactivity, Typical absence seizure, Seizur... ORPHA:168491
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Seizure, Postural tremor, Ataxia, Babinski sign, Dysmetria, Tremor, Loss of ambulatio... OMIM:607694
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Parkinsonism, Impaired social interactions, Ataxia, Tremor, Cerebellar atrophy, Action tr... OMIM:619738
Multiple Mitochondrial Dysfunctions Syndrome 6
Spasticity, Seizure, Inability to walk, Ataxia, Absent speech, Failure to thrive, Dysmetria, Cere... OMIM:617954
Developmental And Epileptic Encephalopathy 42
Myoclonic seizure, Focal tonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Convulsive... OMIM:617106
Huntington Disease-Like 1
Chorea, Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety, Restlessness OMIM:603218
Myoclonus-Dystonia Syndrome
Writer's cramp, Torticollis, Panic attack, Depression, Anxiety, Dystonia, Personality disorder ORPHA:36899
Basal Ganglia Calcification, Idiopathic, 5
Chorea, Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Athetosis OMIM:615483
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Ataxia, Babinski sign OMIM:611105
Yoon-Bellen Neurodevelopmental Syndrome
Spasticity, Inability to walk, Generalized myoclonic-atonic seizure, Status epilepticus, Ataxia, ... OMIM:619701
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Spinocerebellar Ataxia, Autosomal Recessive 32
Gait ataxia, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Torticollis, Limb atax... OMIM:619862
Spinocerebellar Ataxia, Autosomal Recessive 26
Gait ataxia, Impaired distal proprioception, Impaired distal vibration sensation, Dysdiadochokine... OMIM:617633
Neuroectodermal Melanolysosomal Disease
Spasticity, Seizure, Cerebellar hypoplasia, Rigidity, Abnormal cerebellar vermis morphology, Atax... ORPHA:33445
Boucher-Neuhauser Syndrome
Gait ataxia, Spasticity, Ataxia, Decreased circulating gonadotropin concentration, Hypogonadotrop... OMIM:215470
Spinocerebellar Ataxia 17
Gait ataxia, Chorea, Seizure, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Ataxia, Br... OMIM:607136
Developmental And Epileptic Encephalopathy 6B
Chorea, Myoclonic seizure, Inability to walk, Focal-onset seizure, Myoclonus, Choreoathetosis, St... OMIM:619317
Cln3 Disease
Myoclonic seizure, Shuffling gait, Seizure, Focal-onset seizure, Ataxia, Loss of ambulation, Bila... ORPHA:228346
Spastic Paraplegia 30, Autosomal Dominant
Ankle clonus, Spastic gait, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Lower limb spas... OMIM:610357
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Abnormal pyramidal sign, Cerebellar hypoplasia, Eyelid myoclonus, Oculomotor apraxia, Generalized... OMIM:618060
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Glutathione Synthetase Deficiency
Neutropenia, Hemolytic anemia, Ataxia, Intention tremor OMIM:266130
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Infertility, Azoospermia, Elevated circulating luteinizi... OMIM:229070
Leukodystrophy, Hypomyelinating, 18
Spasticity, Seizure, Spastic tetraplegia, Progressive spasticity, Delayed speech and language dev... OMIM:618404
Perrault Syndrome 1
Gait ataxia, Spastic diplegia, Ataxia, Increased circulating gonadotropin level, Gonadal dysgenes... OMIM:233400
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Ankle clonus, Spastic gait, Upper limb spasticit... OMIM:614409
Spermatogenic Failure 28
Decreased testicular size, Male infertility, Elevated circulating luteinizing hormone level, Non-... OMIM:618086
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Spinocerebellar Ataxia 29
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Delayed speech and language developme... OMIM:117360
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Limb dystonia, Myoclonus, Abnormality of extrapyramidal moto... OMIM:605407
Crome Syndrome
Renal tubular epithelial necrosis, Cerebellar dysplasia OMIM:218900
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive spastic paraplegia, Progressive spastic paraparesis, Cerebellar vermis atrophy, Falls... ORPHA:329308
4H Leukodystrophy
Seizure, Dysdiadochokinesis, Progressive gait ataxia, Abnormality of extrapyramidal motor functio... ORPHA:289494
Spinocerebellar Ataxia 21
Gait ataxia, Akinesia, Postural tremor, Parkinsonism, Abnormality of extrapyramidal motor functio... OMIM:607454
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Peroxisome Biogenesis Disorder 8B
Cerebellar vermis atrophy, Babinski sign, Dysesthesia, Frequent falls, Hypertonia, Dysphagia, Uns... OMIM:614877
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Delayed speech and language development, Progressive cerebellar ataxia, Febri... OMIM:618412
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Dentatorubral-Pallidoluysian Atrophy
Chorea, Parkinsonism, Atrophy of the dentate nucleus, Myoclonus, Choreoathetosis, Ataxia, Dystonia OMIM:125370
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Paraparesis, Hand tremor, Incoordination, Gait disturbance, Babinski sign, Dysmetri... OMIM:302800
Spinocerebellar Ataxia 44
Gait ataxia, Spasticity, Dysdiadochokinesis, Delayed speech and language development, Ataxia, Dys... OMIM:617691
Spinocerebellar Ataxia 50
Chorea, Cerebellar vermis atrophy, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Acti... OMIM:620158
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:208441
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:618856
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Axial hypotonia, Hyperkinetic movements, Unsteady ... OMIM:616921
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Apraxia, Premature ovarian insufficiency, Hand tremor, Ataxia, Babinski sign, Cerebel... OMIM:615889
Migraine, Familial Hemiplegic, 2
Gait ataxia, Focal motor seizure, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Dysmetria, T... OMIM:602481
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Poor fine motor coordination, Impaired distal proprioception, Impaired vibration sensation in the... ORPHA:137898
Developmental And Epileptic Encephalopathy 44
Spasticity, Seizure, Absent speech, Failure to thrive, Cerebellar atrophy, Athetosis, Dystonia OMIM:617132
Spinocerebellar Ataxia 5
Gait ataxia, Dysdiadochokinesis, Generalized hypotonia, Limb ataxia, Upper motor neuron dysfuncti... OMIM:600224
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia OMIM:614868
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder, Emotional lability OMIM:617028
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Premature ovarian insufficiency, Ataxia, Difficulty walking, Cerebellar atrophy, Amenorrhea OMIM:619425
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Alexander Disease Type I
Spasticity, Abnormal pyramidal sign, Seizure, Palatal tremor, Cachexia, Hydrocephalus, Ataxia, Fa... ORPHA:363717
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Inability to walk, Myoclonus, Choreoathetosis, Absent speech, Tonic s... OMIM:618497
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:619000
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Gait ataxia, Myoclonic seizure, Echolalia, Limb hypertonia, Inability to walk, Delayed speech and... OMIM:619580
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Spastic diplegia, Delayed speech and language development, Myoclonus, Ataxia, Babinski sign, Bila... OMIM:619065
Spastic Paraplegia 85, Autosomal Recessive
Torticollis, Upper limb spasticity, Impaired tactile sensation, Babinski sign, Spastic paraplegia... OMIM:619686
Pandas
Chorea, Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Impuls... ORPHA:66624
Developmental And Epileptic Encephalopathy 106
Limb hypertonia, Cerebellar hypoplasia, Focal clonic seizure, Absent speech, Tonic seizure, Bilat... OMIM:620028
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Seizure, Truncal ataxia, Progressive gait ataxia, Paralysis, Limb at... ORPHA:101112
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperprolinemia, Ataxia OMIM:239500
Spinocerebellar Ataxia Type 29
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Oculomotor apraxia, Delayed speech an... ORPHA:208513
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Focal motor seizure, Status epilepticus, Tonic seizure, Bilateral ton... OMIM:617711
Leukodystrophy, Hypomyelinating, 6