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Gene: Qki MGI:97837

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
quaking, KH domain containing RNA binding
Synonyms:
Qk,  l(17)-1Wis,  l17Wis1,  1110003F05Rik,  QkI

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Qki 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
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 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
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Abnormal myelination, Hand tremor, Spastic gait, Lower limb spasticity, Progressiv... ORPHA:401840
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
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 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Seizure, Tremor, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Glutathionuria
Tremor OMIM:231950
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Seizure, Spastic paraparesis OMIM:182610
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Acroparesthesia, Progressive gait ataxia, Symmetrical progressive peripheral demyelination, Demye... ORPHA:208981
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Intellectual Developmental Disorder, Autosomal Recessive 6
Seizure, Tremor, Myoclonus, Involuntary movements OMIM:611092
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility, Hearing impairment OMIM:608653
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Paresthesia, Spontaneous pain sensation, Peripheral demyelination, Falls,... ORPHA:2932
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
Roussy-Levy Hereditary Areflexic Dystasia
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Dist... OMIM:180800
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:614895
Developmental And Epileptic Encephalopathy 32
Seizure, Ataxia, Myoclonus, Tremor OMIM:616366
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Dysmetria, Tremor, Atonic seizure, Generalized myoclonic seizure OMIM:612437
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, CNS demyelination, Peripheral demyelination, Hemiparesis, Ataxia OMIM:165200
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Leukodystrophy, Tremor,... OMIM:614561
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Steppage gait, Difficulty walking, Frequent falls OMIM:618279
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Distal sensory impairment, Steppage gait OMIM:616039
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Axonal degeneration/regeneration, Steppage gait, Distal sensory impairment,... OMIM:606483
Null Syndrome
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, Inability t... ORPHA:280234
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Distal sensory impairment, Axonal regeneration, Steppage gait OMIM:615185
Nondisjunction
Decreased fertility OMIM:158250
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Alpers-Huttenlocher Syndrome
Progressive spasticity, Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Paraparesis, ... ORPHA:726
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Abnormal myelination, Spastic gait, Limb tremor, Lower limb spasticity, Aplasia/Hy... ORPHA:401820
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Gait disturbance, Axonal loss, Motor conduction block,... ORPHA:206594
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Myoclonus, Bilateral tonic-clonic seizure, Tremor OMIM:615127
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... OMIM:607734
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Seizure, Tetraplegia, Status epilepticus, Inability to walk, Cerebral atrophy, Delayed myelination OMIM:618331
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia ORPHA:98797
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Epilepsy, Progressive Myoclonic 7
Seizure, Ataxia, Myoclonus, Tremor OMIM:616187
Insensitivity To Pain With Hyperplastic Myelinopathy
Pain insensitivity, Abnormal peripheral myelination, Impaired tactile sensation OMIM:147530
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Spinocerebellar Ataxia 23
Babinski sign, Cerebellar atrophy, CNS demyelination, Dysmetria, Neuronal loss in central nervous... OMIM:610245
Spastic Paraparesis And Deafness
Hypogonadism, Spastic paraparesis, Tremor OMIM:312910
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia, Seizure, Cavitating leukodystrophy OMIM:619061
Periventricular Nodular Heterotopia 8
Seizure, Spasticity, Delayed myelination OMIM:618185
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Progressive spastic paraplegia, Abnormal myelination, Lower limb spasticity ORPHA:401835
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Impaired distal proprioception, Frequent falls, Loss... ORPHA:101097
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Decreased motor nerve conduction velocity, Gait disturbance, Axonal loss, F... OMIM:611228
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Hand tremor, Spastic dysarthria, Lower limb spasticity, Aplasia/Hypoplasia ... ORPHA:401830
Pelizaeus-Merzbacher Disease
Dystonia, Sudanophilic leukodystrophy, Head titubation, Choreoathetosis, Abnormal CNS myelination... OMIM:312080
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Seizure, Tremor, Hyperkinetic movements, Hemiballismus OMIM:616921
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment,... OMIM:607677
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Distal sensory impairm... OMIM:606482
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Babinski sign, CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity, ... OMIM:249900
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Parkinsonism, Dystonia, Axonal loss, Rigidity, Chorea, Peripheral demyelination, Abnormality of e... OMIM:617672
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Dist... OMIM:601098
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral demyelination, Peripheral axonal neuropathy, Impaired distal proprioception, Paraparesis ORPHA:231445
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Steppage gait... OMIM:608340
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Steppage gait, Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment,... OMIM:607731
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Cogwh... ORPHA:497764
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Ata... OMIM:617831
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Step... OMIM:118200
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... ORPHA:99953
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Hand tremor, Somatic sensory dysfunction OMIM:300905
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Seizure, Status epilepticus, Spasticity, Hypergonadotropic hypogonadism OMIM:614307
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, Limb ataxia, Gait... OMIM:617018
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Ax... OMIM:609260
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... ORPHA:399808
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Peripheral demyelination, Chorea, ... ORPHA:397946
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Leukodystrophy, Tremor, Ataxia, Spasticity OMIM:616494
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Clonus, Peripheral axonal neuropathy, Babinski sign, Steppag... OMIM:615035
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormality of male internal genitalia, Male infertility, Bilateral cryptorchidism OMIM:261550
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Dysesthesia, Unsteady gait, Acute demyelinating polyneuropathy ORPHA:98916
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia, Generalized non-motor (absence) seizure OMIM:616421
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Decreased motor nerve conduction velocity, Distal sensory impairment, Perip... OMIM:609311
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:118210
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Step... OMIM:118220
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin... OMIM:605285
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Im... OMIM:610100
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus, Generalized-onset seizure, Focal-onset seizure ORPHA:86814
Progressive Multifocal Leukoencephalopathy
Weakness due to upper motor neuron dysfunction, CNS demyelination, Abnormal oligodendroglia morph... ORPHA:217260
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Seizu... OMIM:615362
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Axonal loss, Peripheral demyelination, Ataxia, Difficulty walking OMIM:616684
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Seizure, Ataxia, Tremor, Atonic seizure, Generalized non-motor (absence) seizure OMIM:614018
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination, Positive Romberg sign, Distal sensory impairment, Broad-... OMIM:258650
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Peripheral axonal neuropathy, Tremor, Ataxia, Spasticity OMIM:611105
Hypertrophic Neuropathy Of Dejerine-Sottas
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Step... OMIM:145900
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Hand tremor, Axonal degeneration, Fasciculations, Tetraplegia, Distal sensory i... OMIM:604484
Spastic Ataxia 4, Autosomal Recessive
Babinski sign, Spastic paraparesis, Spastic ataxia OMIM:613672
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Gait disturbance, Distal sensory impairment, Segmental perip... OMIM:311070
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Distal sensory impairment, Gait disturbance, Peripheral demyelination, Decreased nerve conduction... ORPHA:99944
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spasticity, Babinski sign, Progressive spastic paraparesis, Seizure, Ankle clonus, De... ORPHA:506353
Spinocerebellar Ataxia Type 37
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... ORPHA:363710
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Clumsiness, Hypertonia, Slurred speech, Tip-toe gait, Tetraparesis, Unsteady gait, Decreased numb... ORPHA:2386
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Leukoencephalopathy, Abnormal cerebral white matter morphology, Tremor, Diffuse ce... OMIM:300660
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Seizure, Tremor, Hyperactivity, Inabil... OMIM:618090
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy DECIPHER:59
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Gait disturbance, Cerebellar atrophy, Bilateral tonic-clonic seizure, Rigidity, Fa... OMIM:300423
Developmental And Epileptic Encephalopathy 14
Clonus, Neuronal loss in central nervous system, Gliosis, Tetraplegia, Status epilepticus, Spasti... OMIM:614959
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Gait disturbance, Axonal loss, Peripheral demyelination, Myoclonus, Seizure, Aprax... OMIM:221770
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Myoclonus, Focal hemifacial clonic seizure, Seizure, Tremor, Focal-onset seizure OMIM:608105
Cerebellar Ataxia, Cayman Type
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Cerebellar hypoplasia, Broad-... ORPHA:94122
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal sensory impairment, Segmental peripheral demyelination/remyelination, Axonal degeneration/... OMIM:607791
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Bilateral tonic-clonic seizure, Choreoathetosis, Tetraplegia, Episodic hem... OMIM:104290
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, Peripheral demyelination, CNS demyelination OMIM:250850
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:605588
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Spastic p... OMIM:182815
Developmental And Epileptic Encephalopathy 97
Seizure, Stereotypical hand wringing, Epileptic spasm, Tremor OMIM:619561
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased motor nerve conduction velocity, Steppage gait, Distal sensory im... OMIM:604563
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Stereotypy, Seizure, Ataxia, Tr... OMIM:617862
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity OMIM:162600
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism OMIM:614203
Spastic Paraparesis-Deafness Syndrome
Hypogonadism, Ataxia, Spastic paraparesis, Hemiplegia/hemiparesis ORPHA:2815
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Neuronal loss in central nervous system, Gliosis, Bradykine... OMIM:143100
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiparesis, Seizure, Tremor, Ataxia, Hemiplegia OMIM:141500
Leukodystrophy, Hypomyelinating, 13
Clonus, Leukodystrophy, Ataxia, Hypertonia, Spasticity, Delayed myelination OMIM:616881
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Status epilepticus, Spastic tetraplegia OMIM:613721
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Decr... ORPHA:399805
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Impaired tandem gait, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal sensory impairment, Peripheral axonal neuropathy, Decreased number of large peripheral mye... OMIM:608673
Parkinson Disease 19A, Juvenile-Onset
Rigidity, Bradykinesia, Abnormal pyramidal sign, Seizure, Tremor, Spasticity, Parkinsonism OMIM:615528
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Steppage gait, Peripheral demyelination, Distal sensory impairment, Axonal degeneration/regeneration OMIM:607736
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Spasticity, Cerebellar hypoplasia, Unsteady g... OMIM:213200
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Cerebral atrophy, Substantia nigra gl... OMIM:600116
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ... OMIM:302800
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:168100
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Frequent falls... ORPHA:2590
Seizures, Benign Familial Neonatal, Autosomal Recessive
Hypertonia, Bilateral tonic-clonic seizure OMIM:269720
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Progressive cerebellar ataxia, Abnormal pyramidal sign ORPHA:85292
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Cerebellar atrophy, Tremor by anatomical site, B... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Peripheral axonal neuropathy, Frequent falls, Myoclonus, Fasciculations,... OMIM:607317
Spinocerebellar Ataxia 25
Babinski sign, Impaired pain sensation, Ataxia, Abolished vibration sense, Decreased number of pe... OMIM:608703
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... OMIM:618587
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Rigidity, Myoclonus, Intention tremor, Seizure, Ataxia, Cerebellar vermis hyp... OMIM:618876
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Mast Syndrome
Spastic paraplegia, Babinski sign, Spastic paraparesis, Apraxia OMIM:248900
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Babinski sign, Abnormal myelination, Spasticity ORPHA:431329
Spinocerebellar Ataxia Type 25
Babinski sign, Impaired distal tactile sensation, Decreased number of large peripheral myelinated... ORPHA:101111
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Neuronal loss in central nervous system, Myoclonus, Seizure, Tremor, Ataxia, Hyperactiv... OMIM:615924
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cerebellar atrophy, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Cerebellar h... OMIM:615768
Autosomal Recessive Spastic Paraplegia Type 43
Babinski sign, Spastic gait, Poor fine motor coordination, Spasticity, Spastic paraparesis ORPHA:320370
Leukodystrophy, Hypomyelinating, 16
Dystonia, Dysmetria, Leukodystrophy, Intention tremor, Seizure, Hypertonia, Broad-based gait, Abn... OMIM:617964
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... OMIM:214400
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Seizure, Tremor, Ataxia, Apl... ORPHA:79262
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Spinocerebellar Ataxia 45
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617769
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Increased neuronal autofluorescent lipopigment, Myoclonus, Abnormality of extrapyramidal motor fu... OMIM:162350
Pontocerebellar Hypoplasia, Type 2D
Clonus, Cerebellar atrophy, Chorea, Spastic tetraplegia, Seizure, Cerebral atrophy, Delayed myeli... OMIM:613811
Intellectual Developmental Disorder, Autosomal Dominant 56
Seizure, Ataxia, Spasticity, Paraparesis OMIM:617854
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, Seizure, Ataxia, C... OMIM:600143
Spinocerebellar Ataxia 17
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Neuronal loss in central nervous syste... OMIM:607136
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral ton... OMIM:616056
Developmental And Epileptic Encephalopathy 58
Stereotypy, Seizure, Status epilepticus, Spastic diplegia, Delayed myelination OMIM:617830
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Kufor-Rakeb Syndrome
Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykinesia, Paraparesis, Tremor, Parkinsonism ... OMIM:606693
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... OMIM:260300
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Developmental And Epileptic Encephalopathy 34
Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal ... OMIM:616645
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Dystonia 27
Postural tremor, Action tremor OMIM:616411
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Resting tremor, Ankle clon... ORPHA:363654
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Adult Krabbe Disease
Clumsiness, Babinski sign, Gait disturbance, Hoffmann sign, Acroparesthesia, CNS demyelination, F... ORPHA:206448
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Steppage gait, Perip... OMIM:600882
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Leukodystrophy, Hypomyelinating, 2
Progressive spasticity, Babinski sign, Head titubation, Rigidity, Choreoathetosis, Cerebral hypom... OMIM:608804
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... ORPHA:101110
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Cerebellar atrophy, Neurodegeneration, Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... ORPHA:314978
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
Leukodystrophy, Hypomyelinating, 6
Dystonia, Cerebellar atrophy, Rigidity, Choreoathetosis, Cerebral hypomyelination, Leukodystrophy... OMIM:612438
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:607706
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Gait disturbance, Axonal loss, Decreased nerve conduction velocity, Distal ... OMIM:601455
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... ORPHA:284332
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... OMIM:607080
Autosomal Dominant Cerebellar Ataxia
Torticollis, Fasciculations, Paraparesis, Seizure, Tongue fasciculations, Abnormal pyramidal sign... ORPHA:99
Metachromatic Leukodystrophy
Babinski sign, Optic atrophy, Gait disturbance, Dystonia, Chorea, Peripheral demyelination, Decre... OMIM:250100
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Myoclonus, Facial palsy, Fasciculations, Tremor, Seizure, Generalized-onset seizu... OMIM:159950
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait OMIM:616127
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Decreased motor nerve conduction velocity, Babinski sign, Truncal titubatio... OMIM:610532
Dystonia 23
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... OMIM:614860
Spinocerebellar Ataxia Type 35
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention trem... ORPHA:276193
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... ORPHA:251282
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Babinski sign, Gait disturbance, Bilateral tonic-clonic seizure, Lower limb spas... ORPHA:100988
Developmental And Epileptic Encephalopathy 91
Seizure, Spasticity, Cerebral atrophy, Unsteady gait, Delayed myelination OMIM:617711
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Dentatorubral-Pallidoluysian Atrophy
Choreoathetosis, Chorea, Myoclonus, Seizure, Ataxia, Abnormal pyramidal sign, Atrophy of the dent... OMIM:125370
Chorea, Benign Familial
Chorea OMIM:215450
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Paresthesia, Bilateral tonic-clonic seizure, Choreoathetosis, Paroxysmal dyskinesia, Ep... ORPHA:53583
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Limb ataxi... ORPHA:98763
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Ataxia, Paraparesis ORPHA:99014
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral t... OMIM:254770
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Sensory axonal neuropathy, Tremor, Dysdiadocho... OMIM:607458
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Seizure, Impaired vibration s... OMIM:600363
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Frequent falls, Torticollis, Gliosis, Spasticity, Cerebral atrophy, Gait ataxia OMIM:618369
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Optic atrophy, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, A... OMIM:270500
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... OMIM:616948
Charcot-Marie-Tooth Disease Type 4A
Poor gross motor coordination, Motor conduction block, Impaired distal proprioception, Decreased ... ORPHA:99948
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Paroxysmal dyskinesia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:609446
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Optic atrophy, Peripheral demyelination, Spastic tetraplegia, Seizure OMIM:618237
Spinocerebellar Ataxia 40
Dysmetria, Dysdiadochokinesis, Spastic paraparesis, Intention tremor OMIM:616053
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Stereotypy, Seizure, Spasticity, Cerebral atrophy, Difficulty walking, Delayed myelination OMIM:617393
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis ORPHA:101005
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Bilateral tonic-clonic seizure, Bradykinesia, Tremor, Ataxia, Generalized myo... OMIM:617836
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Seizure, Ataxia, Tremor, Abnormal pyramidal sign OMIM:612016
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Babinski sign, Chorea,... OMIM:604168
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
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Azoospermia OMIM:615703
Krabbe Disease
Progressive spasticity, Optic atrophy, CNS demyelination, Peripheral demyelination, Decreased ner... OMIM:245200
Spinocerebellar Ataxia 35
Babinski sign, Cerebellar atrophy, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordinati... OMIM:613908
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... ORPHA:423275
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... ORPHA:306
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Frequent falls, Myoclonus, Progressive gait ataxia, Upper limb hypertonia, Progres... ORPHA:254343
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Babinski sign, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titubation, Cogwheel rigid... OMIM:607483
Spinocerebellar Ataxia 19
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... OMIM:607346
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Cerebellar atrophy, Dysmetria, Seizure, Ataxia, Tremor, Tongue fasciculations, Cer... OMIM:618170
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Inferior vermis hypoplasia, Seizure, Tre... OMIM:614831
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Weakness due to upper motor neuron dysfunction, Abnormality of extrapyramidal moto... ORPHA:275872
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Abnormal myelination, Seizure, Brain atrophy, Cerebral a... ORPHA:85179
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Tremor, Inabili... OMIM:617810
Posterior Column Ataxia With Retinitis Pigmentosa
Impaired proprioception, Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral d... OMIM:609033
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Myoclonus, Gliosis, Loss of Purkinje cells in the cerebellar vermis, Seiz... OMIM:225753
Behr Syndrome
Progressive spasticity, Optic atrophy, Babinski sign, Gait disturbance, Dysmetria, Tremor, Ataxia OMIM:210000
Microcephaly 19, Primary, Autosomal Recessive
Spasticity, Delayed myelination OMIM:617800
Multiple Mitochondrial Dysfunctions Syndrome 5
Seizure, Spasticity, Leukodystrophy, Delayed myelination OMIM:617613
Spastic Ataxia, Charlevoix-Saguenay Type
Onion bulb formation, Decreased motor nerve conduction velocity, Babinski sign, Decreased number ... OMIM:270550
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... OMIM:613728
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor fu... OMIM:300894
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Chorea, Benign Hereditary
Anxiety, Gait disturbance OMIM:118700
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Peripheral axonal neuropathy, Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment... OMIM:618387
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor OMIM:302500
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... OMIM:619028
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Extrapyramidal dyskinesia, Paraparesis, Apraxia, Tetraparesis, Parkinsonism OMIM:105550
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Tremor, Fasciculations, Degeneration of anterior horn... ORPHA:65684
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Visually-induced seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... OMIM:618357
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Dystonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tremor... ORPHA:330050
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Gait disturbance, Peripheral axonal neuropathy, Tremor... ORPHA:101077
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Cerebellar atrophy, Dystonia, Oromandibular dystonia, Bradykines... OMIM:617013
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... OMIM:605253
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
CNS demyelination, Rigidity, Neuronal loss in central nervous system, Gliosis, Shuffling gait, Br... OMIM:221820
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Attention deficit hyperactivity dis... OMIM:619191
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Peripheral demyelination, Somatic sensory dysfunction ORPHA:71211
Diaminopentanuria
Seizure, Ataxia, Spasticity, Neurodegeneration OMIM:222350
Aicardi-Goutieres Syndrome 6
Dystonia, Rigidity, Leukodystrophy, Tremor, Loss of ability to walk OMIM:615010
Episodic Ataxia, Type 9
Dystonia, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepti... OMIM:618924
Leukodystrophy, Hypomyelinating, 9
Dysmetria, Abnormality of extrapyramidal motor function, Leukodystrophy, Intention tremor, Ataxia... OMIM:616140
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Increased neuronal autofluorescent li... ORPHA:79263
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Low... ORPHA:98811
Intellectual Developmental Disorder, X-Linked 104
Seizure, Ataxia, Tremor, Hyperactivity, Spasticity, Delayed CNS myelination, Cerebral cortical at... OMIM:300983
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Cerebellar atrophy, Reduced sperm motility, Hearing impai... ORPHA:320391
Developmental And Epileptic Encephalopathy 16
Dystonia, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Status epilepticu... OMIM:615338
Abetalipoproteinemia
Ataxia, Peripheral demyelination, CNS demyelination OMIM:200100
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Babinski sign, Dystonia, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... ORPHA:453521
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Fasciculations, Tremor, Inability to walk, Abnormal sensory nerve conduction ve... ORPHA:276435
Neuroectodermal Melanolysosomal Disease
Rigidity, Subcortical cerebral atrophy, Seizure, Ataxia, Hypertonia, Tremor, Spasticity, Cerebell... ORPHA:33445
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Obesity, Hyperphagia, And Developmental Delay
Seizure, Delayed myelination, Stereotypy OMIM:613886
Developmental And Epileptic Encephalopathy 4
Bilateral tonic-clonic seizure, Cerebral hypomyelination, Spastic tetraplegia, Tremor, Status epi... OMIM:612164
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Tremor, Ataxia, Abnormal nerve conduction velocity ORPHA:101075
Cln5 Disease
Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Atrophy/Degeneration affecting the... ORPHA:228360
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Optic atrophy, Parkinsonism, Gait disturbance, Rigidity, Frequent falls, Chorea, Orom... ORPHA:216873
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of large p... OMIM:615376
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Babinski sign, Clonus, Myoclonic spasms, Rigidity, Neuronal loss in central nervous system, Glios... OMIM:614498
Primary Angiitis Of The Central Nervous System
Paralysis, Hemiparesis, Paraparesis, Ataxia, Seizure, Tetraparesis, Parkinsonism ORPHA:140989
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Clumsiness, Postural tremor, Babinski sign, Frequent f... ORPHA:3115
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
CNS demyelination, Peripheral demyelination, Tremor, Ataxia, Seizure OMIM:220111
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Peripheral axonal neuropathy OMIM:619099
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Progressive spastic paraparesis, Seizure, Spastic tetraparesis, Spastic ataxia ORPHA:496756
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Inability to walk, Lower limb spasticity, Bilateral ton... OMIM:619639
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... ORPHA:98856
Parkinson Disease 21
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:616361
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Febrile seizure (within the age range of 3 months to 6 years), Abnormal CNS myelin... ORPHA:477673
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Falls, Chin myoclonus, Generalized myoclonic seizure, Generalized... ORPHA:139426
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic dysarthria, Oculomotor apraxia, Ata... ORPHA:313772
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Seizure, Rest... ORPHA:391411
3-Methylglutaconic Aciduria Type 3
Ataxia, Spastic paraparesis, Choreoathetosis ORPHA:67047
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Adrenoleukodystrophy
Paraparesis, Hypogonadism, Seizure, Slurred speech, Incoordination, Truncal ataxia, Impotence, Sp... OMIM:300100
Continuous Spikes And Waves During Sleep
Clumsiness, Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Fo... ORPHA:725
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Babinski sign, Dysmetria, Lower limb spasticity, Spastic tetraparesis, Dysmyelinating leukodystro... OMIM:612319
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Involuntary movements, Dystonia, Cerebellar atrophy, Chorea, Seizure, Ataxia, Inability to walk, ... OMIM:617804
Mitochondrial Complex I Deficiency, Nuclear Type 21
Babinski sign, Leukodystrophy, Ataxia, Difficulty walking, Spasticity, Generalized non-motor (abs... OMIM:618242
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Shuffling gait, Bradykinesia, Subcortical cerebral atrophy, Falls, Resting tremor, Shor... ORPHA:306692
Spinocerebellar Ataxia 48
Babinski sign, Dystonia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Chorea, T... OMIM:618093
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Tremor, Ataxia, Seizure, Incoordination, Unsteady gait, Abnormal pyramidal sign OMIM:614947
Spinocerebellar Ataxia 32
Testicular atrophy, Cerebellar atrophy, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia, Autosomal Recessive 6
Clumsiness, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Spasticity, Gait ataxia OMIM:608029
X-Linked Charcot-Marie-Tooth Disease Type 6
Steppage gait, Hand tremor, Decreased nerve conduction velocity, Impaired vibration sensation in ... ORPHA:352675
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Stereotypy OMIM:616341
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Neuronal loss in central nervous system, Myoclonus, Gliosis, Abnormality of extrapyramidal motor ... OMIM:604218
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Peripheral axonal neuropathy, Falls, Bradykinesia, Spastic tetrapleg... OMIM:617225
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Involuntary movements, Multifocal seizures, Ataxia, Status epilepticus, Spasticity, Delayed myeli... OMIM:615905
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... ORPHA:521406
Developmental And Epileptic Encephalopathy 79
Tonic seizure, Myoclonic seizure, Migrating focal seizure, Seizure, Status epilepticus, Bilateral... OMIM:618559
Ceroid Lipofuscinosis, Neuronal, 5
Clumsiness, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Dysmetria, Myoclo... OMIM:256731
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Myoclonus, Tremor, Seizure, Hypertonia OMIM:261630
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... OMIM:617145
Galloway-Mowat Syndrome 5
Ataxia, Peripheral demyelination, Spasticity OMIM:617731
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Leukodystrophy, Hypomyelinating, 3
Sudanophilic leukodystrophy, Leukodystrophy, Seizure, Abnormal pyramidal sign, Spastic paraparesis OMIM:260600
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Tremor OMIM:159900
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Febrile seizure (within the age range of 3 months to 6 years), Cerebellar atrophy, Frequent falls... ORPHA:512260
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Focal motor seizure, Spastic paraparesis, Generalized non-motor (... OMIM:619338
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Ataxia ORPHA:101078
Infantile Convulsions And Choreoathetosis
Athetosis, Involuntary movements, Experiential epileptic aura, Choreoathetosis, Chorea, Paroxysma... ORPHA:31709
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... ORPHA:284324
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Kinetic tremor, Chorea, Spinal cord posterior columns myelin loss, Fas... ORPHA:98756
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Chorea, Paroxysmal dyskinesia, Generalized-onset seizure, General... ORPHA:79137
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Impaired proprioception, Babinski sign, Peripheral axonal neuropathy, Spastic dysarthria, Lower l... ORPHA:352641
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Bilateral tonic-clonic seizure, Lower limb spasticity, Seizure, Ataxia, Generalized myo... ORPHA:464282
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Impaired distal proprioception, Decreased number of la... OMIM:162400
Lopes-Maciel-Rodan Syndrome
Dystonia, Cerebellar atrophy, Caudate atrophy, Bradykinesia, Seizure, Tremor, Hypertonia, Ankle c... OMIM:617435
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Spastic ataxia, Seizure, Cerebral atrophy, Loss of ambulation, Hypertonia, Slurred sp... ORPHA:137898
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... OMIM:239850
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis OMIM:302802
Unilateral Hemispheric Polymicrogyria
Focal atonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Hemiparesis, Focal-onset ... ORPHA:101071
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, B... OMIM:615157
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral... OMIM:618917
Spastic Paraplegia 11, Autosomal Recessive
Babinski sign, Knee clonus, Spastic gait, Lower limb spasticity, Impaired vibration sensation in ... OMIM:604360
Developmental And Epileptic Encephalopathy 6B
Dystonia, Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Chore... OMIM:619317
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Parietal cortical atrophy, Abnormal pyramidal sign, Abnormal cerebellar peduncle morphology, Demy... ORPHA:98
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Lower limb spasticity, Seizure, Ataxia, Inability to walk, Waddling gait, Broad-based g... OMIM:616756
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Cystathioninuria
Seizure, Tremor ORPHA:212
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Torticollis, Bradykinesia, Seizure, Craniofacial dystonia, Resting tremor, Pa... ORPHA:71517
Folinic Acid-Responsive Seizures
Dystonia, Cerebellar atrophy, Cerebral hypomyelination, Chorea, Seizure, Clonic seizure, Status e... ORPHA:79097
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Seizure, Broad-based gait OMIM:619470
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Myoclonic seizure, Gliosis, Seizure, Status ep... ORPHA:168486
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Paraparesis, Seizure, Ataxia, Tetraparesis ORPHA:27
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral tonic-clonic seizure ... OMIM:607682
Developmental And Epileptic Encephalopathy 54
Seizure, Delayed myelination OMIM:617391
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Global brain atrophy, Tremor, Aplasia of the inferior half of the ... OMIM:610185
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... OMIM:300088
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism ORPHA:210571
Spastic Ataxia 5, Autosomal Recessive
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic ataxia, Oculomotor apraxia, Ataxia,... OMIM:614487
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
Pyknoachondrogenesis
Stillbirth OMIM:265880
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordination, Bilateral... ORPHA:86909
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Dystonia, Decreased number of large peripheral myelinated nerve f... OMIM:208920
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Cerebellar atrophy, Myoclonus, Seizure, Progressive cerebellar ataxia, Tremor, Abnormal... ORPHA:139485
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Seizure, Tremor, H... OMIM:618877
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Abnormality of extrapyramidal mot... ORPHA:320406
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral demyelination, Decreased nerve conduction velocity, Myelin outfoldings, Spastic tetrap... OMIM:609136
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait a... OMIM:616719
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Gait disturbance, Distal sensory impairment, Decreased nerve conduction vel... OMIM:615284
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Distal sensory impairment, Axonal loss, Steppage gait OMIM:614455
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Dysgenesis of the cerebellar vermis, Azoospermia, Cere... ORPHA:8
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Abnormal myelination, Bilateral to... ORPHA:289266
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Gait disturbance, Rigidity, Decreased sensory nerve co... OMIM:603472
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Irregular myelin loops, Distal sensory impairment, Fac... OMIM:601382
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... OMIM:609270
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Severe demyelination of the white matter, Global brain atrophy, Gliosis, Abno... OMIM:236792
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Dystonia 24
Torticollis, Head tremor, Blepharospasm OMIM:615034
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Seizure, Inability to walk, Cerebellar atrophy, Abnormal myelination OMIM:618324
Spastic Paraplegia 2, X-Linked
Babinski sign, Dysmetria, Spastic gait, Lower limb spasticity, Spastic paraplegia, Spastic parapa... OMIM:312920
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Seizure, Spasticity OMIM:612716
Spinocerebellar Ataxia Type 28
Babinski sign, Dystonia, Kinetic tremor, Rigidity, Spasticity, Head tremor, Parkinsonism, Limb at... ORPHA:101109
Spinocerebellar Ataxia Type 27
Gait disturbance, Hand tremor, Sensory axonal neuropathy, Tremor, Truncal ataxia, Akinesia, Limb ... ORPHA:98764
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination, Ataxia, Hypergonadotropic hypogonadism ORPHA:88637
Atypical Rett Syndrome
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Infantile spasms, Impaired pai... ORPHA:3095
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... ORPHA:240103
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... OMIM:301310
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Speech apraxia, Seizure, Bilate... OMIM:245570
Beta-Propeller Protein-Associated Neurodegeneration
Rigidity, Bradykinesia, Tremor, Seizure, Parkinsonism, Spastic paraparesis ORPHA:329284
Young Syndrome
Azoospermia OMIM:279000
Ethanolaminosis
Cardiomegaly OMIM:227150
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Falls, Hyperactivity, Atonic seizure, Focal-onset seiz... ORPHA:2382
Developmental And Epileptic Encephalopathy 17
Athetosis, Dystonia, Chorea, Cerebral atrophy, Generalized tonic seizure, Delayed myelination OMIM:615473
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:1941
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Tremor, Abnormal peripheral action potential amplitude, Inability to walk, D... ORPHA:90117
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Spastic tetraplegia, Hyperto... OMIM:619301
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Global brain atrophy, Bradykinesia, Tremor, Apraxia, Spasticity, ... OMIM:612953
Developmental And Epileptic Encephalopathy 28