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
impaired righting response Kcnj6em1(IMPC)H HOM Early adult 4.02×10-08
increased circulating triglyceride level Kcnj6em1(IMPC)H HOM   Early adult 7.29×10-05
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
increased circulating alanine transaminase level Kcnj6em1(IMPC)H HOM   Early adult 4.80×10-05
increased exploration in new environment Kcnj6em1(IMPC)H HOM Early adult 6.48×10-05
decreased anxiety-related response Kcnj6em1(IMPC)H HOM Early adult 1.35×10-08

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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
Failure to thrive, Hypertonia, Spastic tetraparesis, Microcephaly 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
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
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
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Visually-induced seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... OMIM:615400
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
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 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
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
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:22
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Epilepsy, Familial Temporal Lobe, 3
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure OMIM:611630
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, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:121210
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia, Generalized hypotonia, Hypotonia OMIM:213000
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Nocturnal seizures OMIM:117100
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral t... OMIM:254770
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... OMIM:300088
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia ORPHA:98797
Spinocerebellar Ataxia 11
Cerebellar atrophy OMIM:604432
Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation
Photosensitive tonic-clonic seizure OMIM:226800
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:600669
Spinocerebellar Ataxia Type 5
Cerebellar atrophy ORPHA:98766
Spinocerebellar Ataxia 41
Cerebellar atrophy OMIM:616410
Spinocerebellar Ataxia Type 32
Testicular atrophy, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Male infertility ORPHA:276183
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... OMIM:604403
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:604233
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Cerebellar atrophy, Azoospermia, Ataxia OMIM:613909
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:616172
Episodic Ataxia, Type 9
Dystonia, Bilateral tonic-clonic seizure, Tonic seizure, Cerebellar edema, Seizure, Clonic seizur... OMIM:618924
Spinocerebellar Ataxia 37
Dysphagia, Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:605021
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Spastic tetraplegia, Ataxia, Inability to walk, Pachygyria, Hypoplasia of the brainstem, Cerebell... OMIM:618174
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:613863
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Gait disturbance, Babinski sign, Cerebellar atrophy, Rigidity, Bilateral tonic-clonic seizure, Fa... OMIM:300423
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Cerebellar atrophy, Myoclonic seizure, Bilateral tonic-clonic seizu... OMIM:611726
Spinocerebellar Ataxia 43
Rigidity, Distal sensory impairment, Cerebellar vermis atrophy, Ataxia, Tremor, Limb ataxia, Gait... OMIM:617018
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... OMIM:618357
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607628
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cerebellar atrophy, Tremor, Hypogonadism, Truncal ataxia, Cerebellar hypoplasia, S... OMIM:615768
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral ton... OMIM:616056
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... ORPHA:330050
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607631
Spinocerebellar Ataxia 48
Dystonia, Dysphagia, Cerebellar atrophy, Babinski sign, Cachexia, Bilateral tonic-clonic seizure,... OMIM:618093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia ORPHA:217012
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:613060
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Cerebellar atrophy, Tremor, Ataxia, Apraxia, Spasticity, Premature ovarian insufficiency OMIM:615889
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... OMIM:608096
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure 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
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:615697
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral tonic-clonic seizure ... OMIM:607682
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:615369
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Tremor, Inabili... OMIM:617810
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy ORPHA:211017
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spasticity, Abnormal pons morphology, Babinski sign, Impaired vibration sensation in ... ORPHA:171622
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized ... ORPHA:139426
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal autonomic seizure, Bilateral tonic-clon... ORPHA:101046
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy, Broad-based gait OMIM:605388
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
X-Linked Intellectual Disability, Hedera Type
Gait disturbance, Babinski sign, Cerebellar atrophy, Bilateral tonic-clonic seizure, Frequent fal... ORPHA:93952
Cerebellar Ataxia And Albinism
Head tremor, Ataxia, Olivopontocerebellar atrophy OMIM:258300
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... ORPHA:306
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Autosomal Spastic Paraplegia Type 30
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Dis... ORPHA:101010
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral atrophy OMIM:615268
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Gray matter heterotopia, Polymicrogyria, Cerebellar hypoplasia OMIM:604213
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Seizure, Hemiplegia OMIM:141500
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to wa... OMIM:618090
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Ataxia, Hyperactivity, Hypertriglyceridemia, Mental deterioration OMIM:615924
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Seizure OMIM:616187
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
Gordon Holmes Syndrome
Cerebellar atrophy, Oligomenorrhea, Infertility, Hypogonadotropic hypogonadism, Ataxia OMIM:212840
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... OMIM:615362
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:609446
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Cerebellar Ataxia, Cayman Type
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Cerebellar hypoplasia, Genera... ORPHA:94122
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Ataxia, Inability to walk, Hypotonia, Appendicular hypotonia OMIM:619333
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Spinocerebellar Ataxia Type 37
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... ORPHA:363710
Spinocerebellar Ataxia 45
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617769
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 years), Toni... OMIM:618917
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia, Hypotonia ORPHA:1397
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity OMIM:300830
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Cerebellar atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:1941
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... ORPHA:98769
Pontocerebellar Hypoplasia, Type 14
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Delayed social development, Hypoplasi... OMIM:619301
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:607681
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Hypoplasia of the brainstem, Polymicrogyria, Cerebellar hypoplasia, Cortical dysplasia, M... OMIM:615771
Morbid Obesity And Spermatogenic Failure
Oligospermia, Decreased HDL cholesterol concentration, Infertility, Azoospermia, Increased LDL ch... OMIM:615703
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Generalized hypotonia, Hypotonia, Unste... OMIM:616127
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Gen... OMIM:617831
Dystonia With Cerebellar Atrophy
Dystonia, Dysphagia, Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Craniofacial... OMIM:611694
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spastic Paraplegia 32, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Ankle clonus, Spastic par... OMIM:611252
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Dysphagia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Sp... OMIM:614487
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Ataxia, Anxiety, Broad-based gait OMIM:617665
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Stereotypy, Tremor, Ataxia, Seizure OMIM:617862
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Bilateral tonic-clonic... OMIM:245570
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Loss of ability to walk, Generalized hypotonia, Un... OMIM:617917
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Dysphagia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Sp... ORPHA:313772
47,Xyy Syndrome
Oligospermia, Hypospadias, Macroorchidism, Increased serum testosterone level, Dysgenesis of the ... ORPHA:8
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:616341
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Pontocerebellar Hypoplasia, Type 15
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Delayed social development, Myoclonic... OMIM:619302
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617133
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Cerebellar atrophy, Failure to thrive, Poor eye contact, Ataxia, Inability to walk, Tet... OMIM:618276
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... ORPHA:284332
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Gait imbalance, Bilateral tonic-clonic seizure, Seizure, Cerebellar hypoplasi... ORPHA:488635
Spinocerebellar Ataxia 38
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:615957
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Unilateral Hemispheric Polymicrogyria
Focal atonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure, Gene... ORPHA:101071
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... OMIM:601764
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Aplasia/Hypoplasia o... ORPHA:79262
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia, Cerebellar atrophy, Seizure OMIM:613402
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Rigidity, Myoclonus, Intention tremor, Seizure, Cerebellar vermis hypoplasia,... OMIM:618876
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Ceroid Lipofuscinosis, Neuronal, 11
Seizure, Ataxia, Generalized myoclonic seizure, Cerebellar atrophy OMIM:614706
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Tremor, Oculomotor apraxia, Seizur... ORPHA:529665
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Cerebellar atrophy, Limb myoclonus, Febrile seizure (within the... ORPHA:263516
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Bilateral tonic-clonic seizure, Seizure, Hyperactivity, Ataxia, Status epilep... OMIM:271980
Spinocerebellar Ataxia 31
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:117210
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Seizure precipitated by febrile infection, B... ORPHA:363549
Developmental And Epileptic Encephalopathy 34
Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal ... OMIM:616645
Isolated Focal Cortical Dysplasia
Infantile spasms, Nocturnal seizures, Focal impaired awareness seizure, Seizure, Bilateral tonic-... ORPHA:65683
Spinocerebellar Ataxia, Autosomal Recessive 12
Babinski sign, Cerebellar atrophy, Seizure, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:614322
Continuous Spikes And Waves During Sleep
Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Focal clonic s... ORPHA:725
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Seizure, Ataxia, Unsteady gait, Gait ataxia OMIM:615705
Dystonia 23
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... OMIM:614860
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Spinocerebellar Ataxia Type 35
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Dysmetria, Torticollis, Intention trem... ORPHA:276193
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... ORPHA:101039
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... OMIM:616948
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Diffuse white matter abnormalities, Megalencephaly, Diffuse swelling of cereb... OMIM:613925
Spinocerebellar Ataxia, Autosomal Recessive 6
Clumsiness, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Spasticity, Generalized hypo... OMIM:608029
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Intention tremor, Ataxia, Action tremor, Neonatal hypotonia OMIM:302500
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, B... ORPHA:98762
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... ORPHA:314978
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... OMIM:607745
Spinocerebellar Ataxia 18
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, La... ORPHA:101110
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Cerebellar atrophy, Rigidity, Choreoathetosis, Myoclonus, Seizure, Hyperkinetic... OMIM:616981
Behr Syndrome
Progressive spasticity, Gait disturbance, Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, A... OMIM:210000
Spinocerebellar Ataxia 29
Dysmetria, Impaired tandem gait, Intention tremor, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, Ataxia, Myoclonus, Cerebellar atrophy OMIM:600143
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Clumsiness, Dysphagia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Frequent falls, Sponta... ORPHA:1947
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Seizure, Abnormal pyramidal sign OMIM:612016
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Limb ataxi... ORPHA:98763
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Atonic seizure, Focal-onset seizure, Generalized myocl... ORPHA:2382
Spinocerebellar Ataxia 23
Babinski sign, Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Tr... OMIM:610245
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Generalized hypotonia, Incoordination, Cerebellar hypoplasia, Spastici... OMIM:213200
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Cerebellar atrophy, Bilateral tonic-clonic seizure OMIM:608278
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Gait disturbance, Hypertriglyceridemia, Elevated circula... OMIM:616516
Rapid-Onset Dystonia-Parkinsonism
Dysphagia, Cerebellar atrophy, Torticollis, Bradykinesia, Seizure, Craniofacial dystonia, Resting... ORPHA:71517
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... OMIM:619028
Juvenile Huntington Disease
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Seizure, Pr... ORPHA:248111
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure ORPHA:163721
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Steppage gait, Distal sensory impairment, Ataxia, Tremor, Gait ataxia OMIM:618387
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Br... OMIM:270500
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... OMIM:261550
Hypermanganesemia With Dystonia 2
Dystonia, Gait disturbance, Cerebellar atrophy, Babinski sign, Oromandibular dystonia, Bradykines... OMIM:617013
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Spinocerebellar Ataxia 19
Postural tremor, Dysphagia, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebel... OMIM:607346
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Spinocerebellar Ataxia 35
Babinski sign, Cerebellar atrophy, Dysmetria, Torticollis, Intention tremor, Ataxia, Incoordinati... OMIM:613908
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Central hypothyroidism, Hypogonadism, Ataxia, Cerebellar hypoplasia OMIM:616113
Familial Infantile Myoclonic Epilepsy
Clumsiness, Gait disturbance, Simple febrile seizure, Cerebellar atrophy, Limb myoclonus, Bilater... ORPHA:352582
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Upper limb spasticity, Lower limb spasticity, Seizure, Inability to walk OMIM:618468
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Lower limb spasticity, Iron accumulation in globus pallidus, Cerebellar vermi... OMIM:619389
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired ... OMIM:618587
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Babinski sign, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... ORPHA:521406
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:254800
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Babinski sign, Cerebellar atrophy, Gait ataxia OMIM:616192
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Hypogonadism OMIM:312910
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Infantile Cerebellar-Retinal Degeneration
Athetosis, Cerebellar atrophy, Bilateral tonic-clonic seizure, Failure to thrive, Ataxia, Focal-o... OMIM:614559
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Dysphagia, Cerebellar atrophy, Dysmetria, Focal dystonia,... OMIM:605361
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Nocturnal seizures, Infantile spasms, Deja vu aura, Focal impaire... ORPHA:98820
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Lopes-Maciel-Rodan Syndrome
Dystonia, Dysphagia, Cerebellar atrophy, Bradykinesia, Tremor, Seizure, Hypertonia, Ankle clonus,... OMIM:617435
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Typical absence seizure, Cerebellar dysplasia, Hypoplasia of the pons, Seizure, C... ORPHA:101070
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Dysmetria, Inferior vermis hypoplasia, Tremor, Atax... OMIM:614831
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Bilateral tonic-clonic seizure, Cerebellar dysplasia, St... ORPHA:457240
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:79137
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fa... OMIM:611302
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Chorea, Cognitive impairment, Tremor, Ataxia, Anxiety, Depressi... ORPHA:401901
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Pancytopenia, Dysmetria, Acute myelomonocytic leukemia, Anemia, ... OMIM:159550
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Bilateral tonic-clonic seizure, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movem... OMIM:618425
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... OMIM:619191
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure OMIM:616281
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Spastic gait, Limb tremor, Aplasia/Hypoplasia of the cerebellar vermis, Lower limb... ORPHA:401820
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Impaired vibration sensation at ankles, Babinski sign, Cerebellar atro... ORPHA:320391
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Seizure, Tongue fasciculations OMIM:618170
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... ORPHA:423275
Glycosylphosphatidylinositol Biosynthesis Defect 17
Aggressive behavior, Hypertriglyceridemia OMIM:618010
Leukoencephalopathy, Brain Calcifications, And Cysts
Dystonia, Gait disturbance, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity, Hypergonadotropic hypogonadism OMIM:614307
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... OMIM:618873
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... OMIM:613728
Dystonia 11, Myoclonic
Writer's cramp, Agoraphobia, Torticollis, Tremor, Anxiety, Depression OMIM:159900
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Bone-marrow foa... OMIM:607616
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... OMIM:616053
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Cerebellar atrophy, Myoclonus, Tremor, Progressive cerebellar ataxia, Seizure, Abnormal... ORPHA:139485
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:86909
Neurodegeneration With Brain Iron Accumulation 7
Dysphagia, Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Spasticity OMIM:617916
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... OMIM:604326
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Spinocerebellar Ataxia 42
Impaired vibration sensation at ankles, Dysphagia, Cerebellar atrophy, Babinski sign, Spastic gai... OMIM:616795
Nescav Syndrome
Babinski sign, Cerebellar atrophy, Seizure, Cerebellar vermis atrophy, Inability to walk, Spasticity OMIM:614255
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Focal-onset seizure, Generalized non-... OMIM:619157
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... OMIM:617225
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Apathy, Bradykinesia, Shuffling gait, Falls, Short stepped shuf... ORPHA:412066
Chorea, Benign Hereditary
Chorea, Anxiety, Gait disturbance OMIM:118700
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Torticollis, Intention tremor, Hypergonadotropic hypogonadism, Head tremor OMIM:613724
Trimethylaminuria
Anemia, Depression, Neutropenia, Splenomegaly OMIM:602079
Neurodegeneration With Brain Iron Accumulation
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor function, Spa... ORPHA:385
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Spastic ataxia, Progressive spastic paraparesis, Seizure, Spastic tetraparesis ORPHA:496756
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal pons morphology, Dysphagia, Cerebellar atrophy, Babinski sign, Dysmetria, Lower limb spa... ORPHA:98
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 years), Frequent falls... ORPHA:512260
Young Syndrome
Azoospermia OMIM:279000
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Fatty Acid Hydroxylase-Associated Neurodegeneration
Dysphagia, Cerebellar atrophy, Progressive extrapyramidal movement disorder, Bilateral tonic-clon... ORPHA:329308
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Dysphagia, Cerebellar atrophy, Myoclonic spasms, Dysmetria, Chorea, Myoclon... ORPHA:79263
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... ORPHA:99
Spinocerebellar Ataxia 46
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Limb ataxia, Gait ataxia OMIM:617770
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Spastic tetraplegia, Seizure, Hypertonia, Bilateral tonic-clonic seizure with... OMIM:618730
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Parkinsonism, Dystonia, Dysphagia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyra... OMIM:617672
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Huntington Disease-Like 2
Dystonia, Dementia, Chorea, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety, Depression OMIM:606438
Spinocerebellar Ataxia, Autosomal Recessive 27
Dysphagia, Cerebellar atrophy, Frequent falls, Torticollis, Spasticity, Gait ataxia OMIM:618369
Spinocerebellar Ataxia 25
Babinski sign, Cerebellar atrophy, Impaired pain sensation, Ataxia, Abolished vibration sense OMIM:608703
Neuroectodermal Melanolysosomal Disease
Rigidity, Tremor, Ataxia, Hypertonia, Seizure, Cerebellar hypoplasia, Spasticity, Abnormal cerebe... ORPHA:33445
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... OMIM:617145
Spastic Paraplegia, Ataxia, And Mental Retardation
Dystonia, Babinski sign, Cerebellar atrophy, Knee clonus, Spastic gait, Lower limb spasticity, Im... OMIM:607565
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:603552
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Spinocerebellar Ataxia 7
Babinski sign, Dysphagia, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor... OMIM:164500
Foxg1 Syndrome
Dystonia, Bilateral tonic-clonic seizure, Choreoathetosis, Infantile spasms, Myoclonus, Poor eye ... ORPHA:561854
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Tremor, Aplasia of the inferior half of the cerebellar vermis, Dys... OMIM:610185
Ataxia-Telangiectasia-Like Disorder
Dystonia, Cerebellar atrophy, Frequent falls, Dysmetria, Chorea, Dilated fourth ventricle, Myoclo... ORPHA:251347
Dandy-Walker Syndrome
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Po... OMIM:220200
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Dysmetria, Spastic dysarthria, Leukoencephalopathy, Spastic ataxia, Progressive cerebel... ORPHA:314603
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:618856
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Cerebellar atrophy, Typical absence seizure, Bilateral tonic-clonic seizure, Fo... ORPHA:168491
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebellar atrophy, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesi... OMIM:300894
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly OMIM:619175
Aminoacylase 1 Deficiency
Seizure, Hyperactivity, Cerebellar atrophy OMIM:609924
Spinocerebellar Ataxia 28
Dystonia, Babinski sign, Cerebellar atrophy, Hypertonia, Spasticity, Parkinsonism, Limb ataxia, G... OMIM:610246
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle ... OMIM:610357
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Cerebellar atrophy, Gait ataxia OMIM:617915
Joubert Syndrome 25
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Glutathione Synthetase Deficiency
Ataxia, Hemolytic anemia, Neutropenia, Intention tremor OMIM:266130
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysphagia, Cerebellar atrophy, Dysmetria, Positive Romberg sign, Distal sensory impairment, Ataxi... OMIM:617633
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Gait disturbance, Dysphagia, Cerebellar atrophy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia ORPHA:284271
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Abnormal cortical gyration, Kinetic tremor, Chorea, Cerebral white mat... ORPHA:98756
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Dysmetria, Intention tremor, Seizure, Dysdiadochokinesis, Truncal ataxia, Cer... OMIM:224050
Leukodystrophy, Hypomyelinating, 6
Dystonia, Cerebellar atrophy, Rigidity, Choreoathetosis, Tremor, Ataxia, Seizure, Spasticity OMIM:612438
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Distal sensory impairment, Ataxia, Tremor, Spasticity, Gait a... OMIM:616719
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Cerebellar atrophy, Abnormality of extrapyramidal motor function, ... OMIM:301020
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Dysphagia, Cerebellar atrophy, Myoclonus, Intention tremor, Generalized-onset se... OMIM:254900
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Spinocerebellar Ataxia 17
Dystonia, Dysphagia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Myoclonus, Positive Romberg... OMIM:607136
Developmental And Epileptic Encephalopathy 6B
Dystonia, Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Chore... OMIM:619317
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Bilateral tonic-clonic s... ORPHA:98818
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... OMIM:619338
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:619000
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Gait disturbance, Babinski sign, Bilateral tonic-clonic seizure, Lower limb spas... ORPHA:100988
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Spinocerebellar Ataxia, Autosomal Recessive 23
Ataxia, Hyponatremia, Neutropenia OMIM:616949
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Pontocerebellar atrophy, Tremor, Ataxia, Oculomotor apraxia, Eyelid myoclonus, Incoordination, Ce... OMIM:618060
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Partial absence of cerebellar vermis, Focal impaired awareness seizure, Aplasia/Hypoplasia of the... ORPHA:137831
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Dysphagia, Cerebellar atrophy, Seizure, Inability to walk, Spasticity OMIM:617086
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Ataxia, Truncal ataxia, Cerebellar hypoplasia OMIM:617584
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Myoclonus-Dystonia Syndrome
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... ORPHA:36387
Ceroid Lipofuscinosis, Neuronal, 5
Clumsiness, Cerebellar atrophy, Dysmetria, Myoclonus, Seizure, Ataxia, Dysdiadochokinesis OMIM:256731
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Crome Syndrome
Cerebellar dysplasia, Renal tubular epithelial necrosis OMIM:218900
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Spinocerebellar atrophy, Hypogonadotropic hypogonadism, Intention tremor, Ata... OMIM:215470
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:208441
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Spastic tetraplegia, Seizure, Ataxia, Spasticity OMIM:617207
Spinocerebellar Ataxia Type 27
Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,... ORPHA:98764
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Dysphagia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Seizure, Ataxia, Spasticity OMIM:618088
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Cln5 Disease
Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Hyperac... ORPHA:228360
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Bradykinesia, Seizure, Gait ataxia OMIM:143100
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... ORPHA:284324
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Amenorrhea, Ataxia, Premature ovarian insufficiency, Difficulty walking OMIM:619425
Leukoencephalopathy with metaphyseal chondrodysplasia
Tremor, Babinski sign, Gait disturbance, Spastic paraplegia OMIM:300660
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Steppage gait, Distal sensory impairment, Ataxia, Seizure OMIM:607250
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Gait disturbance, Dysphagia, Cerebellar atrophy, Babinski sign, Frequent falls, Dysmetria, Hand t... OMIM:302800
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dysphagia, Cerebellar atrophy, Myoclonic spasms, Poor motor coordination, Bilateral t... ORPHA:79264
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Seizure, Ataxia, Cerebellar atrophy OMIM:618879
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus, Muscular hypotonia of the trunk ORPHA:494526
Glycine Encephalopathy
Aggressive behavior, Hyperglycinemia, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus, Muscular hy... OMIM:616921
Leukodystrophy, Hypomyelinating, 21
Athetosis, Dystonia, Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Tetraparesis, Cry... OMIM:619310
4H Leukodystrophy
Dystonia, Dysphagia, Cerebellar atrophy, Dysmetria, Hypogonadotropic hypogonadism, Abnormality of... ORPHA:289494
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Irritability, Emotio... ORPHA:66624
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Cerebellar atrophy, Dysmetria, Failure to thrive, Seizure, Ataxia, Spasticity OMIM:617954
Spinocerebellar Ataxia 5
Cerebellar atrophy, Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis... OMIM:600224
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Folate Malabsorption, Hereditary
Athetosis, Neutropenia, Leukopenia, Ataxia, Irritability, Thrombocytopenia, Folate-responsive meg... OMIM:229050
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Pyridoxine-Dependent Epilepsy
Bilateral tonic-clonic seizure, Early onset absence seizures, Seizure, Status epilepticus, Atonic... ORPHA:3006
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure OMIM:609056
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
Poretti-Boltshauser Syndrome
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gr... OMIM:615960
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Opisthotonus, Limb hypertonia, Tonic seizure, Choreoathetosis, Bilateral toni... OMIM:619580
X-Linked Progressive Cerebellar Ataxia
Clumsiness, Babinski sign, Frequent falls, Dysmetria, Spastic dysarthria, Progressive gait ataxia... ORPHA:1175
Rare Non-Syndromic Intellectual Disability
Seizure, Bilateral tonic-clonic seizure ORPHA:101685
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Babinski sign, Cerebellar atrophy, Infertility, Knee clonus, Upper limb spa... OMIM:614409
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... OMIM:609270
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysmetria, Delayed social development, Intention tremor, Cerebellar vermis at... ORPHA:208513
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Cerebellar atrophy, Rigidity, Bradykinesia, Tremor, Seizure, Parkinsonism, Spastic para... ORPHA:329284
Spinocerebellar Ataxia Type 17
Involuntary movements, Dystonia, Gait disturbance, Cerebellar atrophy, Parkinsonism, Rigidity, Wr... ORPHA:98759
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Leukodystrophy, Hypomyelinating, 18
Progressive spasticity, Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Failure to thrive... OMIM:618404
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Babinski sign, Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus,... OMIM:619065
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Stereotypy, Tremor, Ataxia, Attention defici... ORPHA:10
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Involuntary movements, Dystonia, Cerebellar atrophy, Chorea, Seizure, Ataxia, Inability to walk OMIM:617804
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Babinski sign, Dystonia, Frequent falls, Dysmetria, Intention tremor, Cerebellar verm... ORPHA:453521
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Bradykinesia, Resting tremor, Anxiety, Depression OMIM:605909
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Bilateral tonic-clonic seizure, Bradykinesia, Tremor, Ataxia, Generalized myo... OMIM:617836
Adrenal Hypoplasia, Congenital
Oligospermia, Hyponatremia, Azoospermia, Hypogonadotropic hypogonadism, Cryptorchidism, Precociou... OMIM:300200
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Cerebellar atrophy, Dysmetria, Ataxia, Cerebellar vermis atrophy, Dysdiadochokines... OMIM:616204
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Cerebellar atrophy, Impaired distal propriocep... ORPHA:137898
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Generalized myoclonic seizure, Cerebellar atrophy OMIM:610951
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Cerebellar atrophy, Frequent falls, Dysmetria, Chorea, Torticollis, Spasti... ORPHA:397946
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Babinski sign, Small for gestational age, Choreoathetosis, Dilated fourth ventricle, Torticollis,... OMIM:619054
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Typical absence seizure, Bilateral tonic-clonic seizure, Chorea, Focal emotional seizur... ORPHA:178469
Pontocerebellar Hypoplasia, Type 2D
Clonus, Cerebellar atrophy, Chorea, Spastic tetraplegia, Seizure OMIM:613811
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia OMIM:239500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Neutropenia, Choreoathetosis, Chorea, Anemia, Hyperammonemia, Thrombocytopenia, Lethargy ORPHA:289916
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism, Abnorma... OMIM:618317
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... ORPHA:251282
Huntington Disease-Like 1
Dementia, Dysmetria, Chorea, Aggressive behavior, Unsteady gait, Anxiety, Depression OMIM:603218
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Babinski sign, Cerebellar atrophy, Shyness, Spastic dysarthria, Stereotypy, Seizure, Wa... ORPHA:280763
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Poor motor coordination, Dysmetria, Dilated fourth ventricle, Tremor, Ataxia,... ORPHA:1170
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Gabriele-De Vries Syndrome
Tremor, Dystonia, Cryptorchidism, Waddling gait OMIM:617557
Spinocerebellar Ataxia, Autosomal Recessive 8