Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
prion protein
Synonyms:
PrPSc,  PrPC,  Prn-i,  PrP,  Prn-p,  CD230,  Sinc

IMPC Data Collections

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

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.

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 Prnp 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 predicted to be associated to Prnp by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 17
Male infertility OMIM:617214
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Candidiasis, Familial, 4
Recurrent vulvovaginal candidiasis, Onychomycosis OMIM:613108
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Tuftsin Deficiency
Recurrent infections, Abnormality of the spleen OMIM:191150
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Spastic Paraplegia 72B, Autosomal Recessive
Spastic gait, Babinski sign, Difficulty walking, Spasticity, Gait ataxia OMIM:620606
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk OMIM:209100
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia 37
Tremor, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Impaired vibratory sensation ORPHA:217012
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia 41
Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia OMIM:616410
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Unsteady gai... OMIM:616053
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Cerebellar atrophy, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity,... OMIM:617018
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Dystonia 3, Torsion, X-Linked
Chorea, Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spinocerebellar Ataxia Type 4
Impaired proprioception, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired vibratory... ORPHA:98765
Cerebellar Ataxia, Cayman Type
Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia... ORPHA:94122
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait OMIM:605388
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar... OMIM:615268
Spastic Ataxia With Congenital Miosis
Hemiplegia/hemiparesis, Ataxia, Spastic ataxia ORPHA:1182
Dystonia 27
Oromandibular dystonia, Writer's cramp, Torticollis, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Spasticity, Rigidity ORPHA:2672
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Difficulty walking, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Upper limb ... ORPHA:464440
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Spinocerebellar Ataxia Type 5
Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech ORPHA:98766
Spastic Paraplegia 72A, Autosomal Dominant
Spastic gait, Babinski sign, Tip-toe gait, Hoffmann sign, Spasticity, Impaired vibration sensatio... OMIM:615625
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia Type 23
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Impaired dist... ORPHA:101108
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617769
Dystonia 22, Adult-Onset
Babinski sign, Torticollis, Retrocollis, Gait disturbance, Focal dystonia, Upper limb postural tr... OMIM:620456
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections OMIM:300645
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Spinocerebellar Ataxia Type 37
Falls, Cerebellar vermis atrophy, Dysdiadochokinesis, Tremor, Truncal ataxia, Myoclonus, Gait dis... ORPHA:363710
Autosomal Spastic Paraplegia Type 30
Spastic gait, Babinski sign, Distal sensory impairment, Scissor gait, Lower limb spasticity, Atax... ORPHA:101010
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements OMIM:611031
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Truncal ataxia, Ataxia, Cerebellar hypoplasia, Dysmetria OMIM:617584
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Unsteady gait... OMIM:615768
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Cerebellar atrophy, Inability to walk OMIM:619333
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617133
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Ataxia, Gait ataxia OMIM:117210
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Cereb... ORPHA:276193
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Ataxia, Myoclonus OMIM:616187
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, Intention tremo... ORPHA:314978
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Cerebellar atrophy, Intention tremor, Ataxia, Unsteady gai... OMIM:616948
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Cerebell... OMIM:613908
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Cerebellar ve... ORPHA:284332
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Dystonia, Involuntary movements OMIM:620245
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spastic gait, Babinski sign, Chiari type I malformation, Impaired distal proprioception, Spastici... OMIM:619742
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progressive gait ataxia, Dysmetria OMIM:607458
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Uns... ORPHA:423275
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Cerebellar atrophy, Gait disturbance, Head tremor, L... OMIM:614860
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Inten... ORPHA:101110
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada... ORPHA:98798
Dystonia With Cerebellar Atrophy
Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Cerebellar atrophy, Dystonia OMIM:611694
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Cerebellar atrophy, Gait d... ORPHA:98762
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involu... ORPHA:98807
Lichtenstein-Knorr Syndrome
Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti... OMIM:616291
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Myoclonus OMIM:618876
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Cerebellar atrophy, Head tremo... OMIM:604326
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Migraine, Familial Hemiplegic, 1
Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Deleted in azoospermia
Azoospermia OMIM:400003
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigid... ORPHA:98763
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria OMIM:608029
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Cerebellar atrophy, Intention tremor, Action tremor... OMIM:302500
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall... OMIM:611302
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Cerebellar atrophy, G... OMIM:604432
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent viral infections, Recurrent protozoan infections, Recurrent bacterial infections OMIM:308220
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Fasciculations, Truncal atax... ORPHA:95434
Autosomal Spastic Paraplegia Type 72
Spastic gait, Rigidity, Impaired vibration sensation at ankles, Postural tremor ORPHA:401849
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Spastic... OMIM:128230
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Dystonia 11, Myoclonic
Writer's cramp, Tremor, Torticollis, Myoclonus OMIM:159900
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall... OMIM:607317
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Ataxia, Apraxia ORPHA:85338
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Limb tremor, Aplasia/Hypo... ORPHA:401820
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Immunodeficiency 31A
Recurrent mycobacterium avium complex infections, Recurrent viral infections, BCGitis, Herpes sim... OMIM:614892
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Unsteady gait, Parkinsonism, Abnormal pyramidal sign, P... ORPHA:210571
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia ORPHA:309169
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Intention tremor, Gait ataxia, Unsteady gait,... OMIM:615386
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Cerebellar vermis atrophy, Incoordination, Tremor, Spasticity, Gait ataxia, Dilated ... OMIM:213200
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Difficulty walking, Impaired proprioception, Limb ataxia... ORPHA:251282
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Bradykinesia, Brain atrophy, Chorea, Thalamic calcification, Cerebellar dentate nucleus calcifica... OMIM:618317
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Cryptorchidism OMIM:620103
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Cerebellar atrophy, Loss of ambulation, Ataxia, Increased neuronal autofluoresc... OMIM:600143
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Spinocerebellar Ataxia, Autosomal Recessive 10
Limb ataxia, Babinski sign, Fasciculations, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Inte... OMIM:613728
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
Spinocerebellar Ataxia, Autosomal Recessive 17
Limb ataxia, Oculomotor apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Truncal ataxia, ... OMIM:616127
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Huntington Disease
Bradykinesia, Neuronal loss in central nervous system, Gliosis, Chorea, Cerebellar atrophy, Gait ... OMIM:143100
Paroxysmal Exertion-Induced Dyskinesia
Paroxysmal dyskinesia, Lower limb spasticity, Chorea, Torsion dystonia, Involuntary movements, Dy... ORPHA:98811
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Cerebral degeneration, Ataxia OMIM:260970
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Aplasia of the inferior half of the cerebellar vermis, Atrophy of the dentate nucleus, Broad-base... OMIM:610185
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Vocal cord paralysis, Tremor OMIM:158580
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Ventriculomegaly, Cerebellar atrophy, Ataxia OMIM:613402
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Cerebellar atrophy, Ataxia, Gait ataxia OMIM:615705
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait disturbance... OMIM:617145
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Cerebellar atroph... OMIM:620453
Spastic Paraplegia 30, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Cerebellar atrophy, Spastic paraplegia, Ataxi... OMIM:610357
Microlissencephaly
Lissencephaly, Polymicrogyria, Cerebellar atrophy, Cerebral cortical atrophy, Subcortical heterot... ORPHA:1083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Cerebellar... ORPHA:521406
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Difficulty walking, Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Ce... ORPHA:512260
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Head tremor OMIM:619988
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Distal sensory impairment, Tremor, Cerebellar atrophy, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Tremor, Cerebellar ... OMIM:614831
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Babinski sign, Lower limb spasticity, Cerebellar vermis atrophy, Spasticity, Cerebel... OMIM:614322
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Limb ataxia, Difficulty walking, Cerebellar vermis atrophy, Brain atrophy, Truncal ataxia ORPHA:363432
Cerebellar Ataxia, Cayman Type
Bradykinesia, Broad-based gait, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Intention tremor... OMIM:601238
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Cerebellar vermis hypoplasia, Tremor, Cerebellar atrophy, Gait disturbance, Ga... OMIM:618090
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Urocanic Aciduria
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor OMIM:615048
Spinocerebellar Ataxia 27B, Late-Onset
Limb ataxia, Postural tremor, Cerebellar atrophy, Gait ataxia OMIM:620174
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:607565
Spinocerebellar Ataxia 50
Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Action tremor, Ataxi... OMIM:620158
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Optic atrophy, Cerebellar atrophy, Retinopathy, Ataxia, Neurodegeneration, Pigm... OMIM:610951
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterial infections, Recu... OMIM:611521
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Dysgyria, Abnormal thalamus morphology, Agyria, Hypoplasia of the p... ORPHA:467166
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Cogwheel rigidity... OMIM:607346
X-Linked Progressive Cerebellar Ataxia
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Cerebellar vermis ... ORPHA:1175
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Cerebellar atrophy, Gait ataxia, Dystonia, Ataxia, Parkinsonism, D... OMIM:618093
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Babinski sign, Oculomotor apraxia, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, ... ORPHA:453521
Spinocerebellar Ataxia Type 26
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Pr... ORPHA:101112
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Cerebellar dentate... OMIM:213600
Autosomal Recessive Spastic Paraplegia Type 69
Spastic dysarthria, Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Hand trem... ORPHA:401830
Chorea, Benign Familial
Chorea OMIM:215450
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Head tremor, Gait ataxia, Rigidity, Dyston... ORPHA:101109
Autosomal Recessive Spastic Paraplegia Type 32
Impaired vibration sensation in the lower limbs, Difficulty walking, Cerebellar cortical atrophy,... ORPHA:171622
Spinocerebellar Ataxia 4
Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Cerebellar atrophy, Limb... OMIM:600223
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Lissencephaly, Polymicrogyria, Cerebellar atrophy, Pachygyria, Ventriculomegaly OMIM:618730
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Cerebellar atrophy, Craniofacial dystonia, Limb dyston... ORPHA:71517
Ataxia, Sensory, 1, Autosomal Dominant
Abnormal vestibulo-ocular reflex, Babinski sign, Gait instability, worse in the dark, Impaired di... OMIM:608984
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Cerebellar atrophy, Gait ata... OMIM:615362
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Cerebellar atrophy, Gait disturbance, Ac... OMIM:300423
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegia, Dystonia, Abnormal pyramidal sign, Ch... ORPHA:53583
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Cerebellar atrophy, Gait distu... ORPHA:98764
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Impaired tandem gait, Dysme... OMIM:619028
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Choreoathetosis, Ataxia, Gait disturbance ORPHA:67047
Tremor, Nystagmus, And Duodenal Ulcer
Abnormal cerebellum morphology, Kinetic tremor, Tremor OMIM:190310
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor OMIM:617863
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia, Unsteady gait ORPHA:284271
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Spinocerebellar Ataxia 17
Limb ataxia, Bradykinesia, Broad-based gait, Neuronal loss in central nervous system, Gliosis, Ch... OMIM:607136
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Cerebellar atrophy, ... OMIM:616795
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Impaired tactile s... OMIM:617225
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Action myoclonus, Myocl... OMIM:616230
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Loss of ambulation, Dysmetria OMIM:617916
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl... ORPHA:306692
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Involuntary movements OMIM:616939
Spinocerebellar Ataxia 46
Limb ataxia, Positive Romberg sign, Cerebellar atrophy, Gait ataxia, Dysmetria OMIM:617770
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Astrocytosis, Gait disturbance, Gait ataxia, Basal ganglia gliosis, Ataxia, Loss o... ORPHA:225154
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism OMIM:128235
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Global brain atrophy, Neuronal loss in central nervous system, Gliosis, Shuffling g... OMIM:221820
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Cerebellar atrophy, Limb tremor, Ataxia, Loss of ambulation, Myoclonus, Clums... OMIM:256731
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism OMIM:605909
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Spinocerebellar Ataxia 44
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Frequent falls, Gait ataxia, Ataxia, Dysmetria OMIM:617691
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Cerebellar atrophy, Ataxia, Myoclonus OMIM:616494
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Oculomotor apraxia, Cerebellar vermis atrophy, Incoordination, Truncal ataxia, Cer... OMIM:616204
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic dysarthria, Progressive cerebellar ataxia, Spasticity, Gait ataxia, Dystonia, Spastic ata... ORPHA:314603
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Distal sensory impairment, Impaired pain sensation, Cerebellar vermis atrophy, Spast... OMIM:616719
Diaminopentanuria
Spasticity, Neurodegeneration, Ataxia OMIM:222350
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebral atrophy, Ventriculomegaly, Cerebellar atrophy, Ataxia OMIM:613925
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Chorea, Athetosis, Involuntary movements, Dystonia ORPHA:98809
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Inferior cerebellar vermis hypoplasia, Broad-based gait, Cerebellar ataxia associated with quadru... OMIM:224050
Spinocerebellar Ataxia Type 29
Oculomotor apraxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxi... ORPHA:208513
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... OMIM:602124
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Cerebellar... ORPHA:98773
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Chiari type I malformation, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Senile plaques, Astrocytosis, Abnormal lower motor neuron morpho... ORPHA:100070
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Spinocerebellar Ataxia 49
Babinski sign, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Cerebellar atrop... OMIM:619806
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Truncal ataxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy... ORPHA:352403
Spinocerebellar Ataxia 26
Limb ataxia, Truncal ataxia, Incoordination, Cerebellar atrophy, Gait ataxia OMIM:609306
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Shuffling gait, Rigidity, Dystoni... OMIM:615528
Alexander Disease Type I
Hydrocephalus, Abnormal thalamic MRI signal intensity, Cerebellar atrophy, Ataxia ORPHA:363717
Spastic Paraplegia 32, Autosomal Recessive
Cerebral atrophy, Spastic gait, Difficulty walking, Cerebellar atrophy OMIM:611252
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Global brain atrophy, Inability to walk, Cerebellar atrophy, Hypoplas... OMIM:618276
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Cerebellar hypoplasia, Tremor, Ataxia, Limb dystonia OMIM:620270
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Cerebellar vermis atrophy, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia OMIM:614229
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Lower limb spasticity, Sensory ataxia, Intention tremor, Gait ataxia, Impaired vibratory sensation OMIM:620221
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:600363
Spinocerebellar Ataxia, Autosomal Recessive 26
Limb ataxia, Oculomotor apraxia, Impaired distal proprioception, Positive Romberg sign, Dysdiadoc... OMIM:617633
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Cerebellar atrophy, Titubation, Unsteady gait, Ataxia, Dysmetria OMIM:619405
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Cerebellar calcifications, Thalamic calcification, Bradykinesia OMIM:618824
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Gait ataxia, ... OMIM:617862
Cach Syndrome
Cerebral atrophy, T2 hypointense thalamus, Limb ataxia, Dysgyria, Atrophy/Degeneration affecting ... ORPHA:135
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Spinocerebellar Ataxia Type 17
Cerebellar Purkinje layer atrophy, Torticollis, Writer's cramp, Chorea, Spasticity, Cerebellar at... ORPHA:98759
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Poor motor... ORPHA:1170
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401835
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Frequent fall... ORPHA:216873
Spinocerebellar Ataxia 5
Limb ataxia, Broad-based gait, Incoordination, Dysdiadochokinesis, Cerebellar atrophy, Upper moto... OMIM:600224
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:620482
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Cerebellar hypop... OMIM:617810
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Babinski sign, Positive Romberg sign, Spasticity, Cerebellar atrophy, Dystonia, Ataxia, Loss of a... OMIM:618088
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Dysmetria, Myoclonus OMIM:619191
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Neuronal loss in central nervous system, Astrocytosis, Gliosis, Ataxia ORPHA:204
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Ventriculomegaly, Cerebellar atrophy, Gait ataxia OMIM:619323
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Cerebellar atrophy, Action tremor, Dystonia, ... OMIM:619738
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebral atrophy, Truncal ataxia, Cerebellar atrophy OMIM:611726
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait imbalance, Gliosis, Cerebellar atrophy, Gait disturbance, Gait ataxia, Cerebral cortical atr... OMIM:618369
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Cerebellar atrophy, Dystonia, Myoclonus, Abnormal pyramida... ORPHA:139485
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Cerebellar atrophy, Gait atax... OMIM:609270
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Myoclonus OMIM:615400
Behr Syndrome
Babinski sign, Truncal ataxia, Cerebellar vermis atrophy, Tremor, Cerebellar atrophy, Progressive... OMIM:210000
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Gliosis, Cerebellar atrophy, Agenesis of corpus callosum, Cerebell... ORPHA:168486
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Tremor, Ataxia, Gait disturbance ORPHA:101075
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus ORPHA:324588
Spinocerebellar Ataxia Type 2
Cerebellar Purkinje layer atrophy, Progressive cerebellar ataxia, Fasciculations, Chorea, Gait at... ORPHA:98756
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Cerebral cortical atrophy, Cerebellar hypoplasia, Decreased thalamic volume, Simplified gyral pat... OMIM:619072
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Cerebellar vermis atrophy, Chorea, Gait ataxia, Ataxia, Dysmetria OMIM:618501
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Spastic dysarthria, Lower ... ORPHA:352641
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia OMIM:614706
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Neuronal loss in central nervous system, Astrocytosis, Gait disturbance OMIM:600795
Spinocerebellar Ataxia, Autosomal Recessive 32
Bradykinesia, Limb ataxia, Torticollis, Cerebellar atrophy, Gait ataxia, Limb myoclonus, Somatic ... OMIM:619862
Nescav Syndrome
Cerebral atrophy, Inability to walk, Cerebellar vermis atrophy, Cerebellar atrophy, Ataxia OMIM:614255
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction
Cerebral atrophy, Cerebellar atrophy, Gait disturbance OMIM:620515
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Gliosis, Cerebellar atrophy, Cerebellar hemisphere hypoplasia, Simplified gyral... OMIM:615095
Hemimegalencephaly
Polymicrogyria, Gliosis, Gray matter heterotopia, Abnormal neuron morphology, Pachygyria, Ventric... ORPHA:99802
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... ORPHA:261529
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Cerebellar cyst, Inability to walk, Polymicrogyria, Gliosis, Basal ganglia glio... ORPHA:79243
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Spinocerebellar Ataxia Type 43
Limb ataxia, Distal sensory impairment, Progressive cerebellar ataxia, Cerebellar vermis atrophy,... ORPHA:497764
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Loss of ambulation, Ataxia, Myoclonus OMIM:614018
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Periventricular nodular heterotopia OMIM:618185
Dystonia 37, Early-Onset, With Striatal Lesions
Leg dystonia, Oculomotor apraxia, Chorea, Loss of ambulation, Ataxia, Generalized dystonia, Chore... OMIM:620427
Sodium-Dependent Multivitamin Transporter Deficiency
Cerebral atrophy, Polymicrogyria, Cerebellar atrophy, Hypoplasia of the pons OMIM:618973
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Hypoplasia of the pons, Unsteady gait, Agene... OMIM:617542
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Ataxia, Subcortical ba... OMIM:615771
Basal Ganglia Calcification, Idiopathic, 5
Cerebellar calcifications, Athetosis, Thalamic calcification, Chorea OMIM:615483
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Tremor, Ataxia, Gait disturbance ORPHA:101078
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Senile plaques, Global brain atrophy, Progressive cerebellar ataxia, Neuronal loss ... ORPHA:282166
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus ORPHA:86814
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga... OMIM:616710
Joubert Syndrome 25
Cerebellar hypoplasia, Ataxia, Oculomotor apraxia OMIM:616781
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Cerebral cortical atrophy, T2 hypointense thalamus, Gait disturbance, Caudate atrophy OMIM:618193
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Distal sensory impairment, Axonal degeneration, Gliosis, Gait disturbance, Degeneration of anteri... OMIM:604484
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Cerebellar atrophy, Abnormal p... OMIM:608768
Spinocerebellar Ataxia, Autosomal Recessive 29
Inability to walk, Cerebellar vermis atrophy, Cerebellar atrophy, Corpus callosum atrophy, Ataxia OMIM:619389
Developmental And Epileptic Encephalopathy 76
Cerebral atrophy, Cerebellar atrophy, Inability to walk OMIM:618468
Monomelic Amyotrophy
Fasciculations, Tremor, Degeneration of anterior horn cells ORPHA:65684
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Ankle clonus, Upper limb dysmetria, Impaired ... OMIM:614409
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Spinocerebellar Ataxia Type 25
Progressive cerebellar ataxia, Distal sensory impairment, Impaired pain sensation, Gait ataxia, I... ORPHA:101111
Dystonia 16
Bradykinesia, Generalized dystonia, Retrocollis, Gait disturbance, Involuntary movements, Limb dy... OMIM:612067
Neuroectodermal Melanolysosomal Disease
Hypertonia, Spasticity, Tremor, Rigidity, Ataxia, Cerebellar hypoplasia, Abnormal cerebellar verm... ORPHA:33445
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Leukoencephalopathy, Progressive, With Ovarian Failure
Babinski sign, Apraxia, Spasticity, Cerebellar atrophy, Dystonia, Ataxia, Hand tremor OMIM:615889
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Cerebellar vermis atrophy, Chorea,... ORPHA:248111
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, T2 hypointense thalamus, Inability to walk, Cerebellar atrophy, Gait ataxia, At... ORPHA:1947
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Chorea, Progressive extrapyramidal muscular rig... ORPHA:53351
Autosomal Dominant Spastic Paraplegia Type 6
Babinski sign, Lower limb spasticity, Gait disturbance, Spastic paraplegia, Impaired vibratory se... ORPHA:100988
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Cerebellar atrophy, Craniofacial... ORPHA:420492
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Athetosis, Amyotrophic lateral sclerosis OMIM:300857
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... ORPHA:276435
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Spinocerebellar Ataxia Type 19/22
Limb ataxia, Difficulty walking, Impaired vibration sensation at ankles, Broad-based gait, Trunca... ORPHA:98772
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Dystonia, Myoclonus OMIM:619651
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Titubation, Head tremor, Gait ataxia, Somatic sensory dysfunction, Dysmetria ORPHA:98771
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Dystonia, Ataxia, ... OMIM:618049
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss... ORPHA:101
Huntington Disease-Like 1
Bradykinesia, Chorea, Gliosis, Cerebellar atrophy, Gait disturbance, Gait ataxia, Cerebral cortic... ORPHA:157941
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Spinocerebellar Ataxia 34
Limb ataxia, Fasciculations, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Int... OMIM:133190
Spermatogenic Failure 28
Decreased testicular size, Male infertility, Non-obstructive azoospermia OMIM:618086
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Cerebellar atrophy, Poor fine motor coordination, Myoclonic spasms, D... ORPHA:79263
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis ORPHA:329284
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Babinski sign, Progressive cerebellar ataxia, Dysdiadochokinesis, Intention tremor, Gait ataxia, ... ORPHA:504476
Ataxia-Telangiectasia-Like Disorder
Oculomotor apraxia, Cerebellar vermis hypoplasia, Chorea, Dysdiadochokinesis, Cerebellar atrophy,... ORPHA:251347
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Spastic Paraplegia 39, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Gait disturbance, Ataxia, Progressive spastic paraplegia OMIM:612020
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at... ORPHA:276198
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Decreased thalamic volume OMIM:618646
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Cerebellar atrophy, ... ORPHA:93952
Congenital Muscular Dystrophy With Cerebellar Involvement
Cerebellar cyst, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Decreased thalamic volume,... ORPHA:370959
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, O... ORPHA:370022
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Inability to walk, Lissencephaly, Cerebellar vermis hypoplasia, Ag... ORPHA:300570
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Impaired distal pro... ORPHA:137898
Leukodystrophy, Hypomyelinating, 6