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Gene: Prnp MGI:97769

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

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 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
Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Ataxia, Choreoath... OMIM:612438
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ... OMIM:606703
Developmental And Epileptic Encephalopathy 14
Cerebral cortical atrophy, Neuronal loss in central nervous system, Gliosis OMIM:614959
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Abnormal upper motor neuron morphology, Gliosis, Gait disturbance, Lateral vent... OMIM:221770
Neurodevelopmental Disorder With Dystonia And Seizures
Chorea, Athetosis, Cerebellar atrophy, Temperature instability, Cerebral cortical atrophy, Cerebe... OMIM:619922
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Spasticity, Cerebellar atrophy, ... OMIM:215470
Spinocerebellar Ataxia 6
Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Incoordination, Truncal ataxia, ... OMIM:183086
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus OMIM:618587
Stxbp1-Related Encephalopathy
Inability to walk, Spasticity, Tremor, Dystonia, Ataxia, Spastic tetraplegia ORPHA:599373
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Incoordination, Tremo... OMIM:302800
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Difficulty walking, Inability to walk, Oculogyric crisis, Tremor, Cerebellar atrophy, Dystonia ORPHA:330050
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Abnormal pyramidal sign OMIM:612016
Peroxisome Biogenesis Disorder 8B
Tip-toe gait, Babinski sign, Hypertonia, Lower limb spasticity, Cerebellar vermis atrophy, Spasti... OMIM:614877
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Chorea, Truncal ataxia, Tremor, Cereb... OMIM:208920
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular atrophy, Female hyp... ORPHA:52901
Ataxia-Telangiectasia-Like Disorder 1
Oculomotor apraxia, Lower limb spasticity, Chorea, Dysdiadochokinesis, Cerebellar atrophy, Freque... OMIM:604391
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Dyst... OMIM:617435
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Abnormal circulating ceruloplasmin concentration,... OMIM:615517
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Dystonia, Parkinsonism, Clums... OMIM:619911
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphol... ORPHA:101070
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Impaired tandem gait, Ataxia, Gait ataxia OMIM:605021
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Cerebellar atrophy, Hypoplasia of the pons, Simplified gyral pattern, Cerebella... OMIM:616171
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Brain atrophy, Cerebellar atrophy OMIM:618741
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Spastic ataxia ORPHA:496756
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Spastic Ataxia 3, Autosomal Recessive
Cerebellar vermis atrophy, Spasticity, Cerebellar atrophy, Gait ataxia, Dystonia, Ataxia, Loss of... OMIM:611390
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Diffuse cerebral atrophy, Decreased thalamic volume OMIM:613668
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Gait ataxia, Abnormal cerebellum morphology, Hemiparesis, Myocl... OMIM:123400
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... ORPHA:99750
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Astrocytosis, Gait disturbance ORPHA:275864
Spermatogenic Failure 14
Male infertility, Round spermatid arrest, Azoospermia OMIM:615842
Peroxisome Biogenesis Disorder 5B
Oculomotor apraxia, Tremor, Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria OMIM:614867
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Cerebellar atrophy OMIM:610003
Spastic Ataxia 5, Autosomal Recessive
Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Dystonia, Ataxia, Spastic... OMIM:614487
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Laryngeal... OMIM:606159
Parkinsonism With Polyneuropathy
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:619279
Huntington Disease-Like 1
Global brain atrophy, Chorea, Incoordination, Rigidity, Unsteady gait, Dysmetria OMIM:603218
Spinocerebellar Ataxia 13
Limb ataxia, Progressive cerebellar ataxia, Limb dysmetria, Spasticity, Impaired distal vibration... OMIM:605259
Amyotrophic Lateral Sclerosis 3
Cerebellar atrophy OMIM:606640
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Chorea, Ataxia OMIM:618683
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Neuronal loss in central nervous system, Gliosis, Distal sensory impairment OMIM:604218
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Neuronal loss in central nervous system, Gliosis, Abnormal lower motor neuron m... OMIM:105550
Familial Paroxysmal Ataxia
Torticollis, Cerebellar vermis atrophy, Dystonia, Ataxia, Hemiplegia ORPHA:97
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Waddling gait, Inability to walk OMIM:616269
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Cere... ORPHA:529665
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Progressive cerebellar ataxia, Abnormal upper motor neuron morphology, Glio... ORPHA:275872
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia OMIM:604213
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Neuronal loss in central nervous system, Gliosis, Cerebellar atrophy, Ataxia, U... OMIM:256600
Familial Acute Necrotizing Encephalopathy
Fever, Gliosis, Abnormal thalamus morphology, Gait disturbance ORPHA:88619
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Hypertonia, Lower limb spasticity, Fasciculations, Spastic tetraparesis, Cerebella... OMIM:618598
Spastic Paraplegia 50, Autosomal Recessive
Ventriculomegaly, Gliosis, Cerebellar atrophy, Ataxia OMIM:612936
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Cerebellar atrophy, Inability to walk, Agenesis of corpus callosum OMIM:618324
Cerebrooculofacioskeletal Syndrome 1
Brain atrophy, Gliosis, Cerebellar atrophy, Diffuse cerebral atrophy, Agenesis of corpus callosum... OMIM:214150
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia ORPHA:99014
Dystonia 9
Episodic ataxia, Spastic paraplegia, Dystonia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia OMIM:601042
Autosomal Recessive Spastic Paraplegia Type 74
Difficulty walking, Cerebellar atrophy ORPHA:468661
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion, Progressive cerebellar ataxia, Dysdiadochokinesis, Gait at... ORPHA:254881
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Steppage gait, Distal sensory impairment, Impaired distal proprioception, Cereb... OMIM:607250
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Gait disturbance, Cerebellar dentate nucleus calcification, Dystonia, Ataxia,... ORPHA:542310
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology, Difficulty walking ORPHA:397725
Gordon Holmes Syndrome
Cerebral atrophy, Chorea, Cerebellar atrophy, Ataxia OMIM:212840
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebral atrophy, Inability to walk, Chorea, Polymicrogyria, Cerebellar atrophy, Ventriculomegaly OMIM:614254
Peho-Like Syndrome
Lissencephaly, Polymicrogyria, Cerebellar atrophy, Pachygyria, Ventriculomegaly OMIM:617507
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Focal T2 hyperintense thalamic lesion OMIM:619057
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Gliosis, Gait disturbance, Abnormal cerebellum morphology, Abnormal... OMIM:300957
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Gait ... OMIM:137440
Spinocerebellar Ataxia 21
Limb ataxia, Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor functio... OMIM:607454
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism OMIM:260540
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Cerebellar atrophy, Non-periodic recurre... ORPHA:79264
Leukoencephalopathy With Vanishing White Matter 1
Gliosis, Gait disturbance, Fever, Unsteady gait, Lethargy OMIM:603896
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Cerebellar atrophy, Gray matter heterotopia, Hypoplasia of the pons, Perisylvian ... ORPHA:300573
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebral atrophy, Brain atrophy, Gliosis, Neuronal loss in central nervous system, Cerebellar atr... OMIM:604377
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Cerebellar atrophy, Gait a... OMIM:605361
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebral atrophy, Cerebellar atrophy, Waddling gait OMIM:619090
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Gliosis, Cerebellar atrophy, Corpus callosum atrophy, Ataxia OMIM:236792
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G... OMIM:618877
Congenital Muscular Dystrophy Without Intellectual Disability
Tip-toe gait, Cerebellar cyst, Difficulty walking, Cerebellar atrophy, Gray matter heterotopia, P... ORPHA:370980
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait imbalance, Cerebellar atrophy, Gait ataxia, Cerebella... ORPHA:488635
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti... OMIM:606693
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Tremor, Cerebellar atrophy, Antalgic gait, Tetraparesis OMIM:620546
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Pontocerebellar atrophy, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Ab... OMIM:618060
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... ORPHA:352649
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rig... ORPHA:240085
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Cerebellar hypoplasia, Gliosis, Loss of Purkinje cells in the cerebellar ... OMIM:225753
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Babinski sign, Spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Loss of ambulation, Post... OMIM:607694
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Babinski sign, Impaired proprioception, Impaired vibration sensation at ankles, Lo... OMIM:615491
Hypermanganesemia With Dystonia 2
Tip-toe gait, Babinski sign, Bradykinesia, Oromandibular dystonia, Generalized dystonia, Scissor ... OMIM:617013
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Resting tremor, Poor fine motor coordination, Dysdiadochokinesis, Impaired distal v... OMIM:300623
Proximal Myopathy With Extrapyramidal Signs
Difficulty walking, Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor, Involun... ORPHA:401768
Machado-Joseph Disease
Limb ataxia, Bradykinesia, Progressive cerebellar ataxia, Truncal ataxia, Gliosis, Cerebellar atr... OMIM:109150
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Waddling gait, Limb myoclonus, F... ORPHA:2590
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Tremor, Gait disturbance, Spastic paraparesis, Somatic sen... ORPHA:101077
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Cerebellar atrophy OMIM:615596
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Spastic Paraplegia 75, Autosomal Recessive
Spastic gait, Impaired distal vibration sensation, Cerebellar atrophy, Corpus callosum atrophy, L... OMIM:616680
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Difficulty walking, Progressive cerebellar ataxia, Abnormal cerebellar peduncle morphology, Impai... ORPHA:98
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Tremor, Cerebellar atrophy, ... OMIM:616505
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Torticollis, Inability to walk, Writer's cramp... OMIM:128100
4H Leukodystrophy
Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Upp... ORPHA:289494
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Head tremor, Dystonia, Myoclonus, Impaired tandem gait, Hand tremor OMIM:619724
Lissencephaly 6 With Microcephaly
Lissencephaly, Polymicrogyria, Microlissencephaly, Cerebellar atrophy, Simplified gyral pattern, ... OMIM:616212
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Mitochondrial Complex I Deficiency, Nuclear Type 12
Gait imbalance, Cerebellar atrophy, Unsteady gait, Ataxia, Choreoathetosis OMIM:301020
Spinocerebellar Ataxia Type 10
Babinski sign, Progressive cerebellar ataxia, Gait imbalance, Lower limb spasticity, Dysdiadochok... ORPHA:98761
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Developmental And Epileptic Encephalopathy 37
Cerebral atrophy, Chorea, Cerebellar atrophy, Gait disturbance, Choreoathetosis OMIM:616981
Spinocerebellar Ataxia Type 8
Bradykinesia, Limb ataxia, Spastic dysarthria, Cerebellar vermis atrophy, Spasticity, Cerebellar ... ORPHA:98760
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkinsonism, Spastic par... OMIM:300894
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Joubert Syndrome 30
Dandy-Walker malformation, Polymicrogyria, Cerebellar atrophy, Gray matter heterotopia, Agenesis ... OMIM:617622
Congenital Disorder Of Glycosylation, Type Iiz
Diffuse cerebellar atrophy OMIM:620201
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity, Atrophy/Degeneration involving the spinal cord, Impaired ... ORPHA:70595
Developmental And Epileptic Encephalopathy 98
Cerebral atrophy, Perisylvian polymicrogyria, Cerebellar atrophy OMIM:619605
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia OMIM:613909
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Abnormality of extrapyramidal motor function, Dysesthesia, Gait ataxia, Abnormal... ORPHA:356
Spinocerebellar Ataxia 27A
Limb ataxia, Abnormal vestibulo-ocular reflex, Cerebellar atrophy, Gait ataxia, Postural tremor, ... OMIM:193003
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebral cortical atrophy, Difficulty walking, Cerebellar atrophy, Ataxia OMIM:619425
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park... OMIM:619725
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Pontocerebellar Hypoplasia, Type 2D
Cerebral atrophy, Cerebellar vermis atrophy, Cerebellar atrophy, Chorea OMIM:613811
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Ataxia, Cerebellar hypoplasia OMIM:619971
Pick Disease Of Brain
Gliosis OMIM:172700
Caribbean Parkinsonism
Bradykinesia, Apraxia, Action tremor, Rigidity, Dystonia, Parkinsonism, Myoclonus, Weakness due t... ORPHA:97355
Spermatogenic Failure 13
Male infertility, Azoospermia OMIM:615841
Pelizaeus-Merzbacher Disease, Classic Form
Difficulty walking, Abnormality of extrapyramidal motor function, Spasticity, Athetosis, Spastic ... ORPHA:280219
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Global brain atrophy, Steppage gait, Impaired distal proprioception, Cerebellar vermis atrophy, I... ORPHA:94124
Lissencephaly, X-Linked, 2
Lissencephaly, Gliosis, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly OMIM:300215
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Dystonia, Ataxi... ORPHA:96
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Ataxia OMIM:617207
Mast Syndrome
Cerebral atrophy, Dysdiadochokinesis, Athetosis, Cerebellar atrophy, Gait disturbance OMIM:248900
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Difficulty walking, Atrophy/Degeneration affecting the brainstem, Dysdiadochokinesis, Cerebellar ... OMIM:612319
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Cerebral atrophy, Pontocerebellar atrophy, Brain atrophy, Cerebellar atrophy, Dilated fourth vent... OMIM:620428
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Inability to walk, Chorea, Cerebellar atrophy, Cerebral cortical atrophy, Ataxi... OMIM:617672
Poretti-Boltshauser Syndrome
Cerebellar cyst, Oculomotor apraxia, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cere... OMIM:615960
New-Onset Refractory Status Epilepticus
Fever, Abnormal thalamic MRI signal intensity, Global brain atrophy, Cerebellar edema ORPHA:363558
Neurodevelopmental Disorder With Involuntary Movements
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Chorea, Athetosis, Cerebellar atr... OMIM:617493
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis, Difficulty walking, Inability to walk OMIM:611087
Neuroferritinopathy
Bradykinesia, Abnormal thalamic MRI signal intensity, T2 hypointense thalamus, Difficulty walking... ORPHA:157846
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia OMIM:606438
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Spasticity, Tremor OMIM:609260
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Chorea, Gliosis, Gait ataxia, Recurrent fever, Ataxia, Ventriculomegaly, Neurod... OMIM:618321
Multiple Mitochondrial Dysfunctions Syndrome 6
Inability to walk, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Ataxia, Dysm... OMIM:617954
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Cerebellar atrophy, Ataxia OMIM:618879
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Tremor, Ataxia OMIM:300983
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Athetosis, Cerebellar atrophy, Gait disturbance, Loss of ambulation, Ventricul... OMIM:618241
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Dysdiadochokinesis, Gait ataxi... OMIM:614381
Ataxia-Oculomotor Apraxia 3
Distal sensory impairment, Oculomotor apraxia, Cerebellar atrophy, Frequent falls, Ataxia, Dysmetria OMIM:615217
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Retinal telangiectasia, Neurodegeneration, Cerebellar atrophy, Gait ataxia ORPHA:438134
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Focal T2 hyperintense thalamic lesion OMIM:613724
Rhombencephalosynapsis
Hydrocephalus, Abnormal dentate nucleus morphology, Fusion of the left and right thalami, Agenesi... ORPHA:59315
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Babinski sign, Gait imbalance, Oculomotor apraxia, Cerebellar vermis atrophy, Head tremor, Dyston... ORPHA:64753
Fatty Acyl-Coa Reductase 1 Deficiency
Dandy-Walker malformation, Cerebellar atrophy, Inability to walk ORPHA:438178
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Difficulty walking, Broad-based gait, Atrophy/Degeneration affecting the brainstem, Positive Romb... OMIM:616479
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor... OMIM:261640
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Cerebellar cortical atrophy, Resting t... ORPHA:247234
Migraine, Familial Hemiplegic, 2
Apraxia, Tremor, Cerebellar atrophy, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysme... OMIM:602481
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity, Global brain atrophy, Inability to walk, Gliosis, Cerebel... ORPHA:845
Phenylketonuria
Tremor, Ataxia, Lower limb spasticity ORPHA:716
Glutathionuria
Action tremor, Dysdiadochokinesis, Tremor OMIM:231950
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Dysdiadochokinesis, Retrocer... ORPHA:363429
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Broad-based gait, Tremor, Spastic paraplegia ORPHA:477673
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Combined Oxidative Phosphorylation Deficiency 24
Neuronal loss in central nervous system, Gliosis, Cerebellar atrophy, Agenesis of corpus callosum... OMIM:616239
Leukoencephalopathy With Ataxia
Limb ataxia, Action tremor, Gait ataxia OMIM:615651
Spinocerebellar Ataxia Type 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Resting tremor, Cerebellar v... ORPHA:458803
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Gait ataxia ORPHA:320385
Pontocerebellar Hypoplasia, Type 1E
Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar atrophy OMIM:619303
Hsd10 Disease
Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spastic paraparesis, Choreoathetosis ORPHA:391417
Leukodystrophy, Hypomyelinating, 21
Athetosis, Cerebellar atrophy, Ataxia, Corpus callosum atrophy OMIM:619310
Ataxia With Vitamin E Deficiency
Impaired proprioception, Progressive cerebellar ataxia, Positive Romberg sign, Dysdiadochokinesis... OMIM:277460
Leukodystrophy, Hypomyelinating, 14
Cerebral atrophy, Cerebellar atrophy OMIM:617899
Pontocerebellar Hypoplasia, Type 6
Cerebral atrophy, Cerebellar vermis hypoplasia, Atrophy/Degeneration affecting the brainstem, Bra... OMIM:611523
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Spastic Paraplegia 7, Autosomal Recessive
Spastic gait, Dysdiadochokinesis, Impaired vibration sensation in the lower limbs, Cerebellar atr... OMIM:607259
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Developmental And Epileptic Encephalopathy 42
Hypertonia, Tremor, Ataxia, Athetosis OMIM:617106
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral atrophy, Difficulty walking, Impaired vibration sensation at ankles, Broad-based gait, T... ORPHA:320391
Neurodegeneration With Brain Iron Accumulation 6
Tip-toe gait, Neurodegeneration, Gait disturbance, Bradykinesia OMIM:615643
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Progressive cerebellar ataxia, Cerebellar vermis atrophy, Gait ataxia, Fever, Somatic sensory dys... ORPHA:466794
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormal thalamus morphology ORPHA:557003
Gillespie Syndrome
Cerebellar atrophy, Ataxia, Postural tremor, Cerebellar hypoplasia, Slurred speech OMIM:206700
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Pontocerebellar atrophy, Impaired proprioception, Oculomotor apraxia, Chorea, Tremor... OMIM:606002
Christianson Syndrome
Neuronal loss in central nervous system, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Cerebra... ORPHA:85278
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Ankle clonus, Resting tremor, Axial dystonia... OMIM:612953
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Rigidity, Ataxia, Somatic sensory dysfunction OMIM:603472
Ataxia-Pancytopenia Syndrome
Distal sensory impairment, Impaired vibration sensation in the lower limbs, Cerebellar atrophy, A... OMIM:159550
Multiple System Atrophy
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Frequent falls, Gait... ORPHA:102
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia OMIM:614307
Congenital Disorder Of Glycosylation, Type Iin
Cerebral atrophy, Cerebellar vermis atrophy, Cerebellar atrophy, Inability to walk OMIM:616721
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Cerebellar atrophy, Ataxia, Gait ataxia OMIM:617915
Pelizaeus-Merzbacher Disease, Connatal Form
Difficulty walking, Inability to walk, Gliosis, Dystonic gait, Ataxia, Pachygyria, Cerebellar hyp... ORPHA:280210
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar cortical atrophy, Atrophy/Degeneration affecting the brainstem, Athetosis, Cerebellar ... OMIM:271245
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:616531
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Spastic tetraparesis, Broad-based gait OMIM:619470
Supranuclear Palsy, Progressive, 1
Cerebral atrophy, Bradykinesia, Senile plaques, Akinesia, Gait imbalance, Falls, Neuronal loss in... OMIM:601104
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Ataxia OMIM:300619
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Inability to walk, Tremor, Ataxia, Cerebellar hypoplasia OMIM:619556
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Oromandibular dystonia, Generalized dystonia, Abnormality of extrapyramidal motor ... OMIM:614298
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia... OMIM:615530
Spinocerebellar Ataxia Type 1
Bradykinesia, Impaired proprioception, Progressive cerebellar ataxia, Gait imbalance, Atrophy/Deg... ORPHA:98755
Developmental And Epileptic Encephalopathy 99
Frontotemporal cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy... OMIM:619606
Combined Oxidative Phosphorylation Deficiency 14
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Gliosis, Cerebellar atrophy, Basa... OMIM:614946
Leukodystrophy, Hypomyelinating, 17
Cerebral atrophy, Cerebellar atrophy, Inability to walk OMIM:618006
Leigh Syndrome
Abnormal thalamic MRI signal intensity, Abnormal dentate nucleus morphology, Gliosis, Chorea, Cer... ORPHA:506
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Distal sensory impairment, Inability to walk, Tremor, Somatic sensory dysfun... ORPHA:90117
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology, Ataxia, Patent ductus arteriosus ORPHA:435638
Ataxia-Oculomotor Apraxia 4
Oculomotor apraxia, Tetraplegia, Cerebellar atrophy, Dystonia, Ataxia, Abnormal pyramidal sign, I... OMIM:616267
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity, Difficulty walking, Distal sensory impairment, Inability ... ORPHA:254930
Infantile Cerebellar-Retinal Degeneration
Cerebral cortical atrophy, Athetosis, Cerebellar atrophy, Ataxia OMIM:614559
Atypical Rett Syndrome
Pill-rolling tremor, Inability to walk, Apraxia, Impaired pain sensation, Spasticity, Tremor, Gai... ORPHA:3095
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Tremor, Shuffling gait, Waddling gait, Loss of ambulation ORPHA:209335
Machado-Joseph Disease Type 3
Abnormality of temperature regulation, Progressive cerebellar ataxia, Degeneration of the striatu... ORPHA:276244
Pelizaeus-Merzbacher Disease
Generalized dystonia, Inability to walk, Writer's cramp, Broad-based gait, Cerebellar vermis atro... OMIM:312080
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Cerebellar vermis atrophy, Choreoathetosis, Ataxia OMIM:619054
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Inability to walk, Atrophy/Degeneration affecting the brainstem, Gliosis, Neuronal loss in centra... OMIM:617193
Late-Infantile/Juvenile Krabbe Disease
Acroparesthesia, Difficulty walking, Lower limb spasticity, Impaired tactile sensation, Tetrapleg... ORPHA:206443
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Ataxia, Gait disturbance ORPHA:85317
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Neuronal loss in central nervous ... ORPHA:314404
Galloway-Mowat Syndrome 2, X-Linked
Cerebral atrophy, Polymicrogyria, Cerebellar atrophy, Dysmetria OMIM:301006
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Abnormal cerebellum morphology, Gliosis, Ataxia, Corpus callosum atrophy OMIM:169500
2,4-Dienoyl-Coa Reductase Deficiency
Cerebral atrophy, Hydrocephalus, Cerebellar atrophy, Colpocephaly, Ataxia, Ventriculomegaly, Chor... OMIM:616034
Developmental And Epileptic Encephalopathy 67
Athetosis, Cerebellar atrophy, Gait disturbance OMIM:618141
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Difficulty walking, Tongue fasciculations, Tremor, Frequent falls, Myoclonus, Degeneration of ant... OMIM:159950
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Gliosis, Decreased response to growth hormone stimulation test, Gait distur... ORPHA:457240
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebral atrophy, Bradykinesia, Distal sensory impairment, Cerebellar atrophy, Shuffling gait, At... ORPHA:254886
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Ataxia, Myoclonus OMIM:607876
Sandhoff Disease, Juvenile Form
Cerebral atrophy, Cerebellar atrophy, Gait disturbance, Ataxia, Acroparesthesia ORPHA:309162
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Abnormality of extrapyramidal motor function, Poor fine motor coordi... OMIM:613280
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Rigidity, Dystonia ORPHA:70594
Multiple System Atrophy, Cerebellar Type
Bradykinesia, Limb ataxia, Progressive cerebellar ataxia, Broad-based gait, Resting tremor, Axial... ORPHA:227510
Spastic Paraplegia 85, Autosomal Recessive
Impaired proprioception, Impaired temperature sensation, Impaired tactile sensation, Cerebellar a... OMIM:619686
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Cerebellar atrophy, Exaggerated startle ... OMIM:618056
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Neuronal loss in central nervous system, Gliosis, Hypothermia OMIM:614498
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy, Neurofibrillary tang... OMIM:607485
Perrault Syndrome 1
Increased circulating gonadotropin level, Cerebellar atrophy, Ataxia, Gait ataxia OMIM:233400
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis OMIM:608033
Developmental And Epileptic Encephalopathy 44
Cerebral atrophy, Athetosis, Cerebellar atrophy OMIM:617132
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology, Fever, Abnormal pons morphol... ORPHA:79139
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Gait disturbance, Unsteady gait, Ataxia, Aplasia/Hypoplasia of the cerebellum ORPHA:2585
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Tremor, Spasticity, Rigidity OMIM:176500
Cystathioninuria
Tremor ORPHA:212
Leukodystrophy, Hypomyelinating, 18
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria OMIM:618404
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Neuronal loss in central nervous system, Cerebellar atrophy, Ataxia, Increased ... OMIM:610127
Spinocerebellar Ataxia, Autosomal Recessive 31
Tremor, Dystonia, Ataxia, Cerebellar hypoplasia, Choreoathetosis OMIM:619422
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Craniofacial dystonia, ... OMIM:607483
Spinocerebellar Ataxia, Autosomal Recessive 8
Limb ataxia, Cerebellar atrophy, Dysmetria, Gait ataxia OMIM:610743
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Sh... OMIM:311510
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Cerebellar atrophy, Inability to walk OMIM:617086
Cog7-Cdg
Brain atrophy, Recurrent fever, Subcortical cerebral atrophy, Cerebellar atrophy ORPHA:79333
Multiple System Atrophy, Parkinsonian Type
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Frequent falls, Gait... ORPHA:98933
Spinocerebellar Ataxia 28
Limb ataxia, Cerebellar atrophy, Somatic sensory dysfunction, Gait ataxia OMIM:610246
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Falls, Progressive extrapyramidal muscular rigidity, Axia... ORPHA:240071
Charcot-Marie-Tooth Disease And Deafness
Steppage gait, Tremor, Distal sensory impairment, Gait disturbance OMIM:118300
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Inability to walk, Chorea, Cerebellar atrophy, Gait ataxia OMIM:618917
Spastic Ataxia 9, Autosomal Recessive
Cerebellar vermis atrophy, Impaired distal vibration sensation, Ataxia, Dysmetria OMIM:618438
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Tip-toe gait, Cerebellar cyst, Difficulty walking, Cerebellar atrophy, Pachygyria, Ventriculomegaly OMIM:606612
Saccharopinuria
Tremor, Distal sensory impairment, Spastic diplegia, Gait ataxia ORPHA:3124
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Difficulty walking, Spastic dysarthria, Progressive cerebellar ataxia, Spinocerebellar atrophy, I... ORPHA:95433
Parkinson Disease 8, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607060
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Ataxia ORPHA:3350
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Atrophy of the spinal cord, Cereb... ORPHA:445062
Aicardi-Goutieres Syndrome 6
Rigidity, Tremor, Loss of ambulation, Dystonia OMIM:615010
Progressive Supranuclear Palsy
Bradykinesia, Falls, Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy,... ORPHA:683
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Shuffling gait, Spast... OMIM:300055
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Tremor, Aplasia/Hypoplasia of the cerebellum, Gait disturbance ORPHA:1192
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Inability to walk, Cerebellar dysplasia OMIM:613155
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Impaired distal vibration sensation, Spasticity, Gait disturb... OMIM:616586
Machado-Joseph Disease Type 1
Abnormality of temperature regulation, Progressive cerebellar ataxia, Degeneration of the striatu... ORPHA:276238
Machado-Joseph Disease Type 2
Abnormality of temperature regulation, Progressive cerebellar ataxia, Degeneration of the striatu... ORPHA:276241
Perry Syndrome
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism ORPHA:178509
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebral cortical atrophy, Difficulty walking, Cerebellar atrophy, Waddling gait ORPHA:280763
Spastic Paraplegia Type 7
Spastic gait, Impaired vibration sensation in the lower limbs, Cerebellar atrophy, Cerebral corti... ORPHA:99013
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Cerebellar atrophy, Ataxia, Dysmetria OMIM:618384
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal sensory impairment OMIM:607734
Aceruloplasminemia
Limb ataxia, Abnormal thalamic MRI signal intensity, Akinesia, Abnormal dentate nucleus morpholog... ORPHA:48818
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity, Abnormal cerebellum morphology, Fever, Ataxia, Somatic se... ORPHA:83597
Folinic Acid-Responsive Seizures
Frontotemporal cerebral atrophy, Difficulty walking, Broad-based gait, Chorea, Cerebellar atrophy... ORPHA:79097
Hereditary Methemoglobinemia
Global brain atrophy, Frontal cortical atrophy, Athetosis, Cerebellar atrophy, Temporal cortical ... ORPHA:621
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Ataxia OMIM:619046
Myopathy With Extrapyramidal Signs
Difficulty walking, Abnormality of extrapyramidal motor function, Chorea, Tremor, Frequent falls,... OMIM:615673
Crigler-Najjar Syndrome Type 1
Tremor ORPHA:79234
Brunet-Wagner Neurodevelopmental Syndrome
Cerebral atrophy, Cerebellar atrophy OMIM:619690
Leigh Syndrome
Hepatocellular necrosis, Gliosis, Ataxia OMIM:256000
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Impaired tactile sensation, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:619092
Progressive Myoclonic Epilepsy Type 3
Cerebral atrophy, Progressive truncal ataxia, Cerebellar atrophy, Progressive cerebellar ataxia ORPHA:263516
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pontocerebellar atrophy, Inability to walk, Astrocytosis, Pachygyria, Lissencephaly ORPHA:258
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia OMIM:614306
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Difficulty walking, Chiari type I malformation, Hydrocephalus, Dandy-Walker malformation, Ataxia,... OMIM:618476
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:300861
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Cerebellar atrophy, Ataxia, Dysmetria, Broad-based gait OMIM:618098
Congenital Disorder Of Glycosylation, Type Iih
Ventriculomegaly, Cerebellar atrophy, Ataxia OMIM:611182
Pontocerebellar Hypoplasia, Type 2A
Chorea, Gliosis, Cerebral cortical atrophy, Hypoplasia of the pons, Cerebellar hypoplasia OMIM:277470
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Limb hypertonia, Tremor, Cerebellar atrophy, Athetosis, Dystonia, Ataxia, Spastic tet... OMIM:617710
Microphthalmia-Brain Atrophy Syndrome
Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Corpus callosum atrophy,... ORPHA:77299
Spinocerebellar Ataxia 25
Impaired pain sensation, Abolished vibration sense, Cerebellar atrophy, Ataxia OMIM:608703
Combined Oxidative Phosphorylation Deficiency 32
Inability to walk, Spasticity, Tremor, Cerebellar atrophy, Dystonia, Choreoathetosis OMIM:617664
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Brain atrophy, Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Recurrent ... ORPHA:369939
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, Cerebellar atrophy, Abnormality of neuronal migration, 4-layered lissencephal... ORPHA:89844
Mitochondrial Complex I Deficiency, Nuclear Type 5
Brain atrophy, Cerebellar atrophy, Ataxia, Lethargy OMIM:618226
Hydranencephaly
Atrophic pituitary gland, Cerebral cortical atrophy, Dysgenesis of the thalamus, Ventriculomegaly... ORPHA:2177
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology, Broad-based gait, Paresthesia ORPHA:2959
Congenital Disorder Of Glycosylation, Type Iii
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Truncal ataxia OMIM:613612
Developmental And Epileptic Encephalopathy 47
Limb ataxia, Inability to walk, Cerebellar atrophy, Gait disturbance, Ataxia OMIM:617166
Episodic Ataxia, Type 6
Cerebellar hypoplasia, Cerebellar atrophy, Episodic ataxia, Truncal ataxia OMIM:612656
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Impaired distal vibration sensation, Gait ataxia, Action tremor, Head titubation, A... ORPHA:99027
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Lethal Congenital Contracture Syndrome 7
Cerebral atrophy, Cerebellar atrophy OMIM:616286
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebral atrophy, Diffuse cerebellar atrophy ORPHA:352596
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Global brain atrophy, Gliosis, Shuffling gait, Gait disturbance, Loss of ambulation OMIM:168601
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Limb ataxia, Impaired pain sensation, Cerebellar vermis atrophy, Positive Romberg sign, Cerebella... OMIM:614575
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebral atrophy, Cerebral cortical neurodegeneration, Neuronal loss in central nervous system, A... OMIM:203700
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Progressive gait ... ORPHA:284289
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Tremor, Shuffling gait, Parkinsonism ORPHA:3077
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor OMIM:313200
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Ataxia OMIM:271980
Episodic Ataxia Type 6
Cerebellar atrophy, Ataxia ORPHA:209967
Severe Neurodegenerative Syndrome With Lipodystrophy
Spasticity, Tremor, Poor motor coordination, Limb dystonia, Gait ataxia, Ataxia, Myoclonus, Abnor... ORPHA:363400
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebral atrophy, Difficulty walking, Cerebellar atrophy, Ataxia ORPHA:527497
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebral atrophy, Global brain atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar ... OMIM:615838
Cockayne Syndrome Type 3
Difficulty walking, Retinal dystrophy, Brain atrophy, Astrocytosis, Retinal atrophy, Retinal hemo... ORPHA:90324
Primary Progressive Freezing Gait
Bradykinesia, Babinski sign, Difficulty walking, Gait imbalance, Shuffling gait, Frequent falls, ... ORPHA:75567
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebral atrophy, Cerebellar vermis atrophy, Cerebellar atrophy, Ataxia, Dysmetria OMIM:618170
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cerebral atrophy, Cerebellar vermis atrophy, Dandy-Walker malformation OMIM:616154
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Incoordination, Poor fine motor coordination, Tremor, Ataxia ORPHA:36387
Spinocerebellar Ataxia 1
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Spinocerebellar atrophy, Imp... OMIM:164400
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Limb ataxia, Truncal ataxia, Cerebellar atrophy OMIM:617560
Pontocerebellar Hypoplasia, Type 3
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Hypoplasia of... OMIM:608027
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Spasticity, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
Spinocerebellar Ataxia 10
Limb ataxia, Bradykinesia, Progressive cerebellar ataxia, Distal sensory impairment, Dysdiadochok... OMIM:603516
Supranuclear Palsy, Progressive, 2
Bradykinesia, Akinesia, Gait imbalance, Falls, Neuronal loss in central nervous system, Gliosis, ... OMIM:609454
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebral atrophy, Ventriculomegaly, Cerebellar atrophy, Patent ductus arteriosus OMIM:619797
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Fasciculations, Impaired pain sensation, Tremor, Impaired distal ... OMIM:619574
Aminoacylase 1 Deficiency
Cerebral atrophy, Cerebral cortical atrophy, Cerebellar atrophy OMIM:609924
Sandhoff Disease, Infantile Form
Cerebral cortical atrophy, Abnormal thalamic MRI signal intensity ORPHA:309155
Non-Specific Early-Onset Epileptic Encephalopathy
Difficulty walking, Limb hypertonia, Spasticity, Tremor, Involuntary movements, Rigidity, Abnorma... ORPHA:442835
Aicardi-Goutieres Syndrome 4
Cerebral atrophy, Ventriculomegaly, Cerebellar atrophy, Hydrocephalus OMIM:610333
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Cerebellar atrophy, Agenesis of corpus callosum, Liss... OMIM:614833
Developmental And Epileptic Encephalopathy 65
Cerebral atrophy, Ventriculomegaly, Cerebellar atrophy OMIM:618008
Leukodystrophy, Hypomyelinating, 15
Cerebral atrophy, Athetosis, Cerebellar atrophy, Ataxia, Loss of ambulation OMIM:617951
Panhypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Pituitary hy... ORPHA:95513
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Bradykinesia, Chorea, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Neur... OMIM:610217
Pontocerebellar Hypoplasia, Type 2B
Cerebral atrophy, Cerebellar vermis hypoplasia, Chorea, Cerebellar atrophy, Simplified gyral patt... OMIM:612389
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity, Cerebellar atrophy ORPHA:485421
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Cerebellar atrophy, Ataxia, Cerebellar hypoplasia, Dysmetria ORPHA:313772
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Subacute Inflammatory Demyelinating Polyneuropathy
Steppage gait, Difficulty walking, Distal sensory impairment, Positive Romberg sign, Tremor, Freq... ORPHA:206594
Sneddon Syndrome
Chorea, Hemiparesis, Tremor ORPHA:820
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebellar atrophy OMIM:252650
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Cerebellar atrophy, Abnormal cerebellum mo... ORPHA:324737
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Inferior cerebellar vermis hypoplasia, Limb hypertonia, Fasciculations, Tremor, Cerebellar atroph... OMIM:620327
Peroxisome Biogenesis Disorder 6B
Limb ataxia, Distal sensory impairment, Impaired distal vibration sensation, Cerebellar atrophy, ... OMIM:614871
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Choreoathetosis OMIM:233910
Liang-Wang Syndrome
Cerebral atrophy, Cerebellar atrophy, Ataxia OMIM:618729
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy OMIM:618237
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Short stepped shuffling gait OMIM:168600
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Babinski sign, Spastic dysarthria, Abnormality of pain sensation, Falls, Impaired v... ORPHA:447753
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Pituitary hy... ORPHA:95512
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar cyst, Hypoplasia of the pons OMIM:615181
Mohr-Tranebjaerg Syndrome
Babinski sign, Oromandibular dystonia, Generalized dystonia, Inability to walk, Apraxia, Tremor, ... ORPHA:52368
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebral atrophy, Choreoathetosis, Cerebellar atrophy OMIM:618247
Mannosidosis, Alpha B, Lysosomal
Limb ataxia, Gliosis, Cerebellar atrophy, Gait ataxia, Cerebral cortical atrophy, Corpus callosum... OMIM:248500
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Limb ataxia, Impaired proprioception, Difficulty walking, Truncal ataxia, Cerebellar atrophy, Gai... ORPHA:412057
Krabbe Disease
Hydrocephalus, Recurrent fever, Diffuse cerebral atrophy, Neurodegeneration OMIM:245200
Developmental Delay With Or Without Epilepsy
Spastic gait, Cerebellar atrophy, Ataxia OMIM:620540
Harel-Yoon Syndrome
Inability to walk, Cerebellar atrophy, Ataxia OMIM:617183
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Bradykinesia, Difficulty walking, Truncal ataxia, Astrocytosis, Dysdiadochokinesis, Gait disturbance ORPHA:309854
Spastic Ataxia, Charlevoix-Saguenay Type
Spastic gait, Distal sensory impairment, Falls, Cerebellar vermis atrophy, Impaired vibration sen... OMIM:270550
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Cerebellar atrophy, Ataxia OMIM:604121
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral atrophy, Gliosis, Lateral ventricle dilatation OMIM:619847
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk OMIM:617481
Pyruvate Dehydrogenase Deficiency
Spasticity, Tremor, Cerebral palsy, Gait disturbance, Dystonia, Ataxia, Abnormal pyramidal sign, ... ORPHA:765
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Bradykinesia, Steppage gait, Impaired distal proprioception, Positive Romberg sign, ... OMIM:258450
Spastic Paraplegia 20, Autosomal Recessive
Spastic gait, Difficulty walking, Impaired vibration sensation at ankles, Cerebellar atrophy, Abn... OMIM:275900
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Cerebellar atrophy, Ataxia, Dysmetria OMIM:618356
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Cerebellar atrophy OMIM:618302
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Temperature instability, Gait disturbance, Unsteady gait, Ataxia, Cerebellar ... ORPHA:35069
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, Cerebellar vermis atrophy, Ventriculomegaly, Simplified gyral pattern OMIM:615760
Mitochondrial Dna Depletion Syndrome 17
Cerebral atrophy, Chorea, Cerebellar atrophy OMIM:618567
Developmental And Epileptic Encephalopathy 5
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral cortical atrophy, Cerebe... OMIM:613477
Cog8-Cdg
Atrophy/Degeneration affecting the brainstem, Ventriculomegaly, Cerebellar atrophy, Ataxia ORPHA:95428
Spinocerebellar Ataxia, Autosomal Recessive 20
Inability to walk, Cerebellar atrophy, Cerebral cortical atrophy, Ataxia, Cerebellar hypoplasia OMIM:616354
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Gliosis, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:620451
Coenzyme Q10 Deficiency, Primary, 5
Cerebral atrophy, Hypothermia, Cerebellar atrophy OMIM:614654
Jaberi-Elahi Syndrome
Inability to walk, Broad-based gait, Appendicular spasticity, Dandy-Walker malformation, Cerebell... OMIM:617988
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut... ORPHA:90797
Developmental And Epileptic Encephalopathy 93
Cerebral atrophy, Cerebellar atrophy, Inability to walk, Gait disturbance OMIM:618012
Epilepsy, Progressive Myoclonic, 10
Progressive cerebellar ataxia, Spasticity, Ataxia, Spastic ataxia, Myoclonus, Spastic tetraplegia OMIM:616640
Prune1-Related Neurological Syndrome
Cerebral atrophy, Cerebellar atrophy, Inability to walk ORPHA:544469
Superficial Siderosis
Limb ataxia, Enlarged sylvian cistern, Impaired temperature sensation, Impaired pain sensation, A... ORPHA:247245
Mohr-Tranebjaerg Syndrome
Spasticity, Tremor, Dystonia OMIM:304700
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral atrophy, Cerebellar atrophy OMIM:300475
Peho Syndrome
Neuronal loss in central nervous system, Cerebellar atrophy, Pachygyria, Polymicrogyria OMIM:260565
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Cerebral atrophy, Optic atrophy, Retinal degeneration, Diffuse c... ORPHA:391428
Perry Syndrome
Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Short stepped shuffling gait OMIM:168605
Mepan Syndrome
Cerebral atrophy, Chorea, Cerebellar atrophy, Gait disturbance, Ataxia ORPHA:508093
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, Rhombencephalosynapsis, Fusion of the left and right thalami, Dilat... OMIM:619306
Familial Infantile Myoclonic Epilepsy
Periventricular nodular heterotopia, Cerebellar atrophy, Ataxia, Gait disturbance ORPHA:352582
Hengel-Maroofian-Schols Syndrome
Cerebral atrophy, Inability to walk, Cerebellar atrophy, Gait imbalance OMIM:619641
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cerebellar vermis atrophy, Polymicrogyria, Gait ataxia, Simplified gyral pattern, Ventriculomegaly OMIM:300354
Autosomal Recessive Spastic Paraplegia Type 39
Atrophy of the spinal cord, Cerebellar atrophy, Gait ataxia ORPHA:139480
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cerebral atrophy, Cerebellar atrophy, Patent ductus arteriosus, Ventriculomegaly, Periventricular... OMIM:618659
Marinesco-Sjogren Syndrome
Limb ataxia, Cerebellar cortical atrophy, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:248800
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Inability to walk, Cerebellar atrophy, Cerebral cortical atrophy, Ataxia, Pachygyria, Dysmetria OMIM:619576
Lipoyltransferase 1 Deficiency
Ventriculomegaly, Cerebellar atrophy OMIM:616299
Craniosynostosis 6
Dandy-Walker malformation, Agenesis of corpus callosum, Cerebellar atrophy, Lateral ventricle dil... OMIM:616602
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Difficulty walking, Distal sensory impairment, Inability to walk, Truncal ataxia, Dy... OMIM:617675
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
Autosomal Recessive Spastic Paraplegia Type 78
Difficulty walking, Progressive cerebellar ataxia, Cerebellar atrophy, Cerebral cortical atrophy,... ORPHA:513436
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Babinski sign, Tremor, Gait disturbance, Spastic paraplegia ORPHA:83629
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Distal sensory impairment, Cerebellar atrophy, Ataxia, Dysmetria OMIM:612674
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Cerebral cortical atrophy, Abnormality of the diencephalon, Aplasia/Hypoplasia of the cerebellum ORPHA:2570
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hyperkinetic movements, Difficulty walking, Inability to walk, Chorea, Truncal ataxia, Tremor, Ce... OMIM:615356
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Tremor, Olivopontocerebellar atrophy, Rigidity, Ataxia, Parkinsonism OMIM:146500
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Sensory ataxi... OMIM:616192
Spinocerebellar Ataxia 47
Cerebellar vermis atrophy, Dysmetria, Ataxia, Chorea OMIM:617931
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventriculomegaly, Neurodegeneration OMIM:620210
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebral atrophy, Diffuse cerebellar atrophy ORPHA:477774
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Ventriculomegaly, Cerebellar atrophy, Ataxia OMIM:618547
Galloway-Mowat Syndrome 6
Cerebellar vermis atrophy, Decreased response to growth hormone stimulation test, Cerebellar atrophy OMIM:618347
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Brain atrophy, Cerebellar atrophy, Inability to walk OMIM:614739
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Spinocerebellar Ataxia Type 13
Limb ataxia, Bradykinesia, Difficulty walking, Impaired distal vibration sensation, Cerebellar at... ORPHA:98768
Amish Nemaline Myopathy
Tremor ORPHA:98902
Spinocerebellar Ataxia 36
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:614153
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Diffuse cerebellar atrophy, Progressi... ORPHA:247815
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Intention tremor, Action tremor, Gait ataxia, Unsteady gait, Myoclonus, Postu... OMIM:254900
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Truncal ataxia, Gliosis, Cerebellar atrophy, Cerebral cortical atrophy, Ataxia, Ventriculomegaly OMIM:301072
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor ORPHA:99965
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Cerebellar atrophy OMIM:618506
Meningioma
Enlarged pituitary gland, Difficulty walking, Reduced circulating prolactin concentration, Hydroc... ORPHA:2495
Dpm1-Cdg
Cerebral atrophy, Pontocerebellar atrophy, Abnormal dentate nucleus morphology, Cerebellar atroph... ORPHA:79322
Huppke-Brendel Syndrome
Cerebral atrophy, Cerebellar atrophy, Inability to walk OMIM:614482
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral atrophy, Difficulty walking, Cerebellar vermis hypoplasia, Athetosis, Cerebellar atrophy... ORPHA:572798
Oculopharyngodistal Myopathy 4
Postural tremor, Tremor OMIM:619790
Isolated Atp Synthase Deficiency
Cerebral cortical atrophy, Cerebellar atrophy, Ataxia, Lethargy ORPHA:254913
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gliosis, Hepatic periportal necrosis, Gray matter heterotopia ORPHA:26791
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity ORPHA:444013
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebral atrophy, Cerebellar atrophy, Simplified gyral pattern OMIM:619286
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Akinesia, Gliosis, Shuffling gait, Cerebral cortical atrophy ORPHA:411602
Shukla-Vernon Syndrome
Cerebellar atrophy, Broad-based gait OMIM:301029
Alzheimer Disease 3
Cerebral cortical atrophy, Gait disturbance, Neurofibrillary tangles, Optic ataxia OMIM:607822
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb ataxia, Truncal ataxia, Dysesthesia, Cerebellar atrophy, Gait disturbance, Gait ataxia, Atax... OMIM:619259
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Ventriculomegaly, Nonprogressive cerebellar ataxia, Choreoathetosis, Cerebellar atrophy ORPHA:431361
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Cerebellar hypoplasia, Gliosis, Diffuse cerebral atrophy ORPHA:3240
Acute Bilirubin Encephalopathy
Fever, Abnormal thalamic MRI signal intensity ORPHA:529799
Chronic Bilirubin Encephalopathy
Fever, Abnormal thalamic MRI signal intensity ORPHA:529808
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration ORPHA:171851
Immunodeficiency 114, Folate-Responsive
Cerebral atrophy, Recurrent fever, Cerebellar atrophy OMIM:620603
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis, Neurofibrillary tangles OMIM:619132
Episodic Ataxia Type 1
Tip-toe gait, Choreoathetosis, Cerebellar atrophy ORPHA:37612
Nipah Virus Disease
Tremor, Myoclonus ORPHA:99825
Autosomal Recessive Ataxia, Beauce Type
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Gait disturbance, Ataxia, Impai... ORPHA:88644
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Paraplegia, Positive Romberg sign, Truncal ataxia, Tremor, Spasticity, Intention tre... OMIM:105210
Alzheimer Disease 9, Susceptibility To
Cerebral cortical atrophy, Hippocampal atrophy, Senile plaques, Neurofibrillary tangles OMIM:608907
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... ORPHA:199351
Autosomal Dominant Optic Atrophy, Classic Form
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Gait disturbance, Corpus callos... ORPHA:98673
Kleefstra Syndrome Due To A Point Mutation
Ventriculomegaly, Gliosis, Cerebellar hypoplasia ORPHA:261652
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebral atrophy, Global brain atrophy, Inability to walk, Cerebellar atrophy, Cerebral cortical ... OMIM:617802
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Tremor, Opisthotonus OMIM:250800
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebral atrophy, Inability to walk, Cerebellar atrophy, Perisylvian polymicrogyria, Ataxia, Unst... OMIM:618443
Idiopathic Copper-Associated Cirrhosis
Increased circulating copper concentration ORPHA:209919
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Positive Romberg sign, Dysdiadochokinesis, Cerebellar atrophy, Gait disturbance, Basal ganglia gl... OMIM:301310
D-Bifunctional Protein Deficiency
Polymicrogyria, Gliosis, Cerebellar atrophy, Corpus callosum atrophy, Ventriculomegaly OMIM:261515
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Inability to walk, Hydrocephalus, Polymicrogyria, Gliosis, Dilated third ventricle, Corpus callos... OMIM:620371
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cerebellar atrophy, Unsteady gait, Partial absence of cerebellar vermis, Patent ductus arteriosus... ORPHA:329224
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Tremor, Spastic tetraplegia, Choreoathetosis OMIM:612164
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Brain atrophy, Cerebellar atrophy, Ataxia OMIM:619260
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Babinski sign, Spasticity, Tremor, Spastic paraplegia, Ataxia, Dysmetria OMIM:618527
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebral atrophy, Cerebellar atrophy, Temperature instability, Ventriculomegaly, Lethargy OMIM:620306
Episodic Ataxia, Type 2
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Episodic ataxia, Paresthesia OMIM:108500
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar vermis hypoplasia, Cerebellar atrophy, Gait ataxia, Loss of ambulation, Ataxia OMIM:620089
Slc35A2-Cdg
Cerebral atrophy, Inability to walk, Atrophy/Degeneration affecting the brainstem, Dandy-Walker m... ORPHA:356961
Cog5-Cdg
Atrophy/Degeneration affecting the brainstem, Brain atrophy, Truncal ataxia, Cerebellar atrophy, ... ORPHA:263487
Galloway-Mowat Syndrome 10
Cerebral atrophy, Cerebellar atrophy, Simplified gyral pattern OMIM:619609
Congenital Disorder Of Glycosylation, Type Iil
Cerebral atrophy, Abnormal cortical gyration, Hydrocephalus, Cerebellar atrophy, Patent ductus ar... OMIM:614576
Cerebrotendinous Xanthomatosis
Global brain atrophy, Abnormal cerebellar peduncle morphology, Axonal degeneration, Abnormal dent... ORPHA:909
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Cerebral atrophy, Cerebellar atrophy OMIM:620269
Pontocerebellar Hypoplasia, Type 1D
Cerebral atrophy, Cerebral cortical atrophy, Cerebellar atrophy OMIM:618065
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Abnormality of the diencephalon, Ataxia, Aplasia/Hypoplasia of the cerebellum ORPHA:2720
Kaya-Barakat-Masson Syndrome
Cerebral atrophy, Cerebellar atrophy OMIM:619125
Galloway-Mowat Syndrome 9
Cerebral cortical atrophy, Ventriculomegaly, Choreoathetosis, Cerebellar atrophy OMIM:619603
Adrenoleukodystrophy
Limb ataxia, Truncal ataxia, Impaired vibration sensation at ankles, Neurodegeneration OMIM:300100
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Spastic gait, Cerebellar atrophy, Gait ataxia ORPHA:496790
Pontocerebellar Hypoplasia, Type 1B
Cerebral atrophy, Cerebellar cyst, Cerebellar atrophy OMIM:614678
Scholte Syndrome
Cerebellar atrophy OMIM:300977
Classic Galactosemia
Premature ovarian insufficiency, Male infertility, Secondary amenorrhea, Oligomenorrhea, Primary ... ORPHA:79239
Coenzyme Q10 Deficiency, Primary, 1
Right hemiplegia, Tremor, Cerebellar atrophy, Ataxia, Loss of ambulation, Myoclonus OMIM:607426
Developmental And Epileptic Encephalopathy 48
Cerebral atrophy, Cerebellar atrophy OMIM:617276
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Abnormality of temperature regulation, Ataxia, Elongated superior c... OMIM:618161
Combined Oxidative Phosphorylation Deficiency 39
Cerebral atrophy, Cerebellar atrophy, Simplified gyral pattern, Pachygyria, Ventriculomegaly OMIM:618397
Warburg Micro Syndrome 4
Cerebral cortical atrophy, Perisylvian polymicrogyria, Cerebellar atrophy, Inability to walk OMIM:615663
Fatty Acid Hydroxylase-Associated Neurodegeneration
Falls, Cerebellar vermis atrophy, Atrophy of the spinal cord, Cerebellar atrophy, Loss of ambulat... ORPHA:329308
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Inability to walk, Cerebellar atrophy, Gait disturbance, Corpus callosum atroph... ORPHA:168491
Lead Poisoning
Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abnormality of the m... ORPHA:330015
Multiple Sulfatase Deficiency
Cerebral atrophy, Hydrocephalus, Cerebellar atrophy, Ataxia, Ventriculomegaly OMIM:272200
Combined Oxidative Phosphorylation Deficiency 27
Cerebral atrophy, Global brain atrophy, Chorea, Cerebellar atrophy, Cerebral cortical atrophy, Ce... OMIM:616672
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Axonal degeneration, Optic neuropathy, Retinopathy, Diffuse cerebellar atro... ORPHA:478029
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Frontal cortical atrophy, Atrophy of the spinal cord, Gait disturbance, Hypoth... ORPHA:2822
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation, Progressive cerebellar ataxia ORPHA:98757
3-Methylglutaconic Aciduria, Type Viib
Hyperkinetic movements, Spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Opisthotonus, M... OMIM:616271
Leukodystrophy, Hypomyelinating, 12
Ventriculomegaly, Cerebellar atrophy, Temperature instability OMIM:616683
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Difficulty walking, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Cerebellar hypopla... ORPHA:502423
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebral atrophy, Cerebellar atrophy OMIM:619060
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Inability to walk, Cerebellar vermis atrophy, Ataxia, Cerebellar hypoplasia, Dysmetria OMIM:618087
46,Xy Partial Gonadal Dysgenesis
Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A... ORPHA:251510
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Developmental And Epileptic Encephalopathy 51
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy OMIM:617339
47,Xyy Syndrome
Male infertility, Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Cryptorchidism, Micropen... ORPHA:8
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Dysmetria OMIM:619780
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618868
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculomotor apraxia, Oculogyric crisis, Spasticity, Tremor, Frequent falls, Dystonia, Ataxia, Chor... OMIM:612716
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebral atrophy, Inability to walk, Chorea, Gliosis, Athetosis, Cerebellar atrophy, Ventriculome... ORPHA:404454
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Tremor, Cerebellar edema, Rigidity, Ataxia, Tetraparesis OMIM:617186
Filippi Syndrome
Cerebellar atrophy OMIM:272440
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity, Impaired proprioception, Dysesthesia, Sensory ataxia, Ataxia ORPHA:79138
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral atrophy, Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Ventric... OMIM:619272
Molybdenum Cofactor Deficiency, Complementation Group B
Cerebral atrophy, Ventriculomegaly, Gliosis, Diffuse cerebral atrophy OMIM:252160
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Neuronal loss in central nervous system, Loss of ability to walk in first decade, Truncal ataxia,... OMIM:300243
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Inability to walk, Cerebellar atrophy, Gait ataxia, Ataxia, Ventriculomegaly, Choreoathetosis OMIM:619580
Congenital Disorder Of Glycosylation, Type Iiq
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:617395
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Tes... ORPHA:99429
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cerebral atrophy, Inability to walk, Chorea, Cerebellar atrophy, Ataxia, Ventriculomegaly OMIM:617804
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Spastic gait, Cerebellar atrophy, Gait disturbance, Ataxia, Impaired vibratory sensation OMIM:620538
Ataxia-Telangiectasia-Like Disorder 2
Unsteady gait, Neurodegeneration, Cerebellar atrophy, Ataxia OMIM:615919
Mitochondrial Complex I Deficiency, Nuclear Type 2
Ventriculomegaly, Gliosis, Difficulty walking, Falls OMIM:618222
Hereditary Cryohydrocytosis With Reduced Stomatin
Ataxia, Decreased thalamic volume, Communicating hydrocephalus ORPHA:168577
Spastic Paraplegia 51, Autosomal Recessive
Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Inability to walk OMIM:613744
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration ORPHA:435934
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism ORPHA:1578
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Senile plaques, Neurofibrillary tangles DECIPHER:48
Alpha-Mannosidosis, Adult Form
Cerebral cortical atrophy, Subcortical cerebral atrophy, Cerebellar atrophy, Ataxia ORPHA:309288
Alg1-Cdg
Cerebral atrophy, Cerebellar atrophy ORPHA:79327
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Chorea, Neurodegeneration, Cherry red spot of the macula ORPHA:309246
Intellectual Developmental Disorder, Autosomal Dominant 62
Cerebellar vermis atrophy OMIM:618793
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis, Hepatic periportal necrosis, Pachygyria OMIM:231680
Bilateral Polymicrogyria
Cerebellar ataxia associated with quadrupedal gait, Cerebellar atrophy, Perisylvian polymicrogyri... ORPHA:268940
Adenylosuccinase Deficiency
Cerebral atrophy, Cerebellar atrophy, Inability to walk, Gait ataxia OMIM:103050
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Senile plaques, Neurofibrillary tangles OMIM:605055
Leukodystrophy, Hypomyelinating, 20
Cerebellar atrophy OMIM:619071
Pyruvate Dehydrogenase E2 Deficiency
Difficulty walking, Broad-based gait, Gait disturbance, Retinal degeneration, Neurodegeneration ORPHA:79244
Cimdag Syndrome
Cerebral atrophy, Pontocerebellar atrophy, Cerebellar vermis hypoplasia, Chorea, Polymicrogyria, ... OMIM:619273
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Focal polymicrogyria, Cerebellar atrophy, Partial agenesis of the cor... OMIM:619103
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy ORPHA:3085
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebral atrophy, Cerebellar atrophy, Ataxia, Patent ductus arteriosus, Cerebellar hypoplasia OMIM:615398
Molybdenum Cofactor Deficiency, Complementation Group A
Cerebral atrophy, Ventriculomegaly, Gliosis OMIM:252150
Digital Extensor Muscle Aplasia-Polyneuropathy
Impaired pain sensation, Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Irida Syndrome
Decreased circulating copper concentration ORPHA:209981
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Patent ductus arteriosus, Neuronal loss in central nervous system, Gliosis, Cerebral cortical atr... OMIM:300868
Cntnap2-Related Developmental And Epileptic Encephalopathy
Cerebellar vermis atrophy, Abnormality of neuronal migration, Abnormal neuron morphology, Ataxia ORPHA:163681
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Limb ataxia, Cerebellar vermis atrophy, Broad-based gait, Truncal ataxia OMIM:617101
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Holoprosencephaly 14
Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Cerebellar atrophy, Gray matter he... OMIM:619895
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Fever, Thalamic hemorrhage ORPHA:464321
Mitochondrial Complex I Deficiency, Nuclear Type 28
Truncal ataxia, Choreoathetosis, Cerebellar atrophy, Akinesia OMIM:618249
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar vermis atrophy, Polymicrogyria, Athetosis, Cerebellar atrophy, Colpocephaly, Agenesis ... OMIM:614866
Joubert Syndrome With Renal Defect
Oculomotor apraxia, Cerebellar vermis hypoplasia, Tremor, Gait disturbance, Ataxia ORPHA:220497
Developmental And Epileptic Encephalopathy 95
Cerebral atrophy, Inability to walk, Cerebellar vermis atrophy, Cerebellar atrophy, Gait disturba... OMIM:618143
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebral atrophy, Cerebellar atrophy, Ataxia, Ventriculomegaly, Choreoathetosis OMIM:615471
Early-Onset Autosomal Dominant Alzheimer Disease
Cerebral cortical atrophy, Ataxia, Neurofibrillary tangles ORPHA:1020
East Syndrome
Inability to walk, Difficulty walking, Cerebellar atrophy, Ataxia ORPHA:199343
Niemann-Pick Disease, Type C1
Neuronal loss in central nervous system, Ataxia, Neurofibrillary tangles, Gait ataxia OMIM:257220
Holoprosencephaly 7
Hydrocephalus, Panhypopituitarism, Fusion of the left and right thalami, Agenesis of corpus callo... OMIM:610828
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebral atrophy, Brain atrophy, Cerebellar atrophy, Corpus callosum atrophy OMIM:616875
Takenouchi-Kosaki Syndrome
Patent ductus arteriosus, Cerebellar atrophy, Cerebral cortical atrophy, Ataxia, Cerebellar hypop... OMIM:616737
Dystonia-Aphonia Syndrome
Cerebral atrophy, Cerebellar atrophy, Gait disturbance, Unsteady gait ORPHA:412217
Joubert Syndrome
Oculomotor apraxia, Cerebellar vermis hypoplasia, Tremor, Gait disturbance, Ataxia ORPHA:475
Short Stature-Micrognathia Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia OMIM:617164
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Polymicrogyria, Cerebellar atrophy, Hypoplasia of the pons, Ataxia, Cerebellar hypoplasia, Dysmetria OMIM:619708
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral atrophy, Lissencephaly, Polymicrogyria, Cerebellar atrophy, Hypoplasia of the pons, Oliv... ORPHA:468631
Congenital Disorder Of Deglycosylation 1
Chorea, Gliosis, Athetosis, Fever, Pain insensitivity, Dysmetria OMIM:615273
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar vermis hypoplasia, Cerebellar atrophy, Gait ataxia, Diffuse cerebral atrophy, Ataxia ORPHA:543470
Glutaryl-Coa Dehydrogenase Deficiency
Chorea, Tremor, Athetosis, Poor motor coordination, Limb dystonia, Rigidity, Dystonia, Ataxia ORPHA:25
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Cerebellar vermis atrophy, Dysdiadochokinesis, Gait disturbance, Ataxia, Simpli... OMIM:616541
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Posterior pituitary hypoplasia, Broad-base... ORPHA:268261
Mitochondrial Dna Depletion Syndrome 11
Cerebellar atrophy OMIM:615084
Familial Benign Copper Deficiency
Decreased circulating copper concentration ORPHA:1551
Familial Or Sporadic Hemiplegic Migraine
Impaired temperature sensation, Dissociated sensory loss, Spontaneous pain sensation, Cerebellar ... ORPHA:569
Galloway-Mowat Syndrome 1
Cerebral atrophy, Dandy-Walker malformation, Cerebellar atrophy, Abnormality of neuronal migratio... OMIM:251300
Congenital Disorder Of Glycosylation, Type Id
Cerebral atrophy, Cerebellar atrophy OMIM:601110
Neurodegeneration With Brain Iron Accumulation 1
Bradykinesia, Babinski sign, Akinesia, Abnormality of extrapyramidal motor function, Spasticity, ... OMIM:234200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tip-toe gait, Babinski sign, Hypertonia, Difficulty walking, Inability to walk, Impaired tactile ... ORPHA:466768
Congenital Disorder Of Glycosylation, Type Il
Cerebral atrophy, Global brain atrophy, Cerebellar atrophy OMIM:608776
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Cerebral cortical atrophy, Cerebellar hypoplasia, Cerebellar atrophy OMIM:617763
Peho Syndrome
Hydrocephalus, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cerebral cortica... ORPHA:2836
Autosomal Recessive Spastic Paraplegia Type 35
Pontocerebellar atrophy, Difficulty walking, Atrophy/Degeneration affecting the brainstem, Dysdia... ORPHA:171629
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy ORPHA:352447
Fragile X-Associated Tremor/Ataxia Syndrome
Bradykinesia, Dysesthesia, Gait disturbance, Gait ataxia, Cerebral cortical atrophy, Ataxia, Diff... ORPHA:93256
Congenital Disorder Of Glycosylation, Type Iig
Cerebral atrophy, Cerebellar vermis hypoplasia, Brain atrophy, Cerebellar atrophy, Lateral ventri... OMIM:611209
Pontocerebellar Hypoplasia, Type 2E
Cerebral atrophy, Ventriculomegaly, Cerebellar atrophy OMIM:615851
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Ventriculomegaly, Cerebellar atrophy ORPHA:466934
Cerebral Visual Impairment
Optic atrophy, Optic nerve hypoplasia, Central nervous system degeneration, Increased cup-to-disc... ORPHA:447788
Xeroderma Pigmentosum, Complementation Group B
Ventriculomegaly, Cerebellar atrophy, Ataxia OMIM:610651
Cockayne Syndrome
Cerebral atrophy, Difficulty walking, Inability to walk, Gliosis, Cerebellar atrophy, Gait distur... ORPHA:191
Galloway-Mowat Syndrome 3
Cerebral atrophy, Lissencephaly, Cerebellar atrophy, Simplified gyral pattern, Pachygyria, Ventri... OMIM:617729
Charcot-Marie-Tooth Disease Type 4C
Difficulty walking, Inability to walk, Impaired pain sensation, Positive Romberg sign, Impaired d... ORPHA:99949
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Decreased pineal volume, Cerebellar atrophy OMIM:301108
Copper Deficiency, Familial Benign
Decreased circulating copper concentration OMIM:121270
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Decreased response to growth hormone stimulation test, Pituitar... OMIM:614963
Mevalonic Aciduria
Cerebral atrophy, Progressive cerebellar ataxia, Cerebellar atrophy, Ataxia, Agenesis of cerebell... OMIM:610377
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Interhypothalamic adhesion, Agenesis of corpus callosum OMIM:618929
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cerebellar atrophy ORPHA:544503
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar vermis hypoplasia, Cerebellar atrophy, Dilated fourth ventricle, Olivopontocerebellar ... OMIM:212065
Stt3B-Cdg
Cerebellar atrophy ORPHA:370924
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cerebral atrophy, Gait disturbance, Gait ataxia, Ataxia, Neurodegeneration OMIM:616878
Congenital Disorder Of Glycosylation, Type Ix
Cerebellar atrophy OMIM:615597
3-Methylglutaconic Aciduria Type 7
Cerebral atrophy, Choreoathetosis, Cerebellar atrophy ORPHA:445038
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebral atrophy, Cerebellar atrophy OMIM:268020
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Young-Onset Parkinson Disease
Bradykinesia, Gait imbalance, Spasticity, Tremor, Rigidity, Dystonia ORPHA:2828
Fatal Familial Insomnia
Fever, Neuronal loss in central nervous system, Ataxia OMIM:600072
Cerebrotendinous Xanthomatosis
Cerebral atrophy, Difficulty walking, Abnormal dentate nucleus morphology, Cerebellar atrophy, At... OMIM:213700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... OMIM:242150
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Cerebral atrophy, Dystonic gait, Diffuse cerebellar atrophy, Corpus callosum atrophy ORPHA:480898
Combined Oxidative Phosphorylation Deficiency 25
Cerebral atrophy, Ventriculomegaly, Cerebellar atrophy, Hypoplasia of the pons OMIM:616430
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Chorea, Neurodegeneration OMIM:272750
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebral atrophy, Gliosis, Cerebellar atrophy, Ataxia OMIM:124000
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal cerebellum morphology, Abnor... ORPHA:68
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration ORPHA:521411
Niemann-Pick Disease Type C
Cerebral atrophy, Cerebellar vermis atrophy, Frontal cortical atrophy, Chorea, Gait disturbance, ... ORPHA:646
Alzheimer Disease 4
Senile plaques, Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:606889
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy OMIM:618186
Cadds
Ventriculomegaly, Cerebellar atrophy ORPHA:369942
Spinocerebellar Ataxia Type 7
Cerebral atrophy, Dysdiadochokinesis, Cerebellar atrophy, Ataxia, Somatic sensory dysfunction, Dy... ORPHA:94147
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Gait imbalance, Cerebellar vermis hypoplasia, Cerebellar atrophy, Gait disturbance, Ataxia, Cereb... OMIM:300966
Amyotrophic Lateral Sclerosis
Neurodegeneration, Amyotrophic lateral sclerosis, Motor neuron atrophy ORPHA:803
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebral atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar atrophy, Cerebellar hyp... OMIM:618590
Combined Oxidative Phosphorylation Deficiency 29
Global brain atrophy, Cerebellar atrophy, Axonal degeneration OMIM:616811
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Cerebellar vermis hypoplasia, Gliosis, Hypoplasia of the pons, Patent ductus arteriosus, Ventricu... OMIM:620455
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Cerebral atrophy, Cerebellar atrophy OMIM:616266
Papillorenal Syndrome
Gliosis, Chiari type I malformation OMIM:120330
Stt3A-Cdg
Cerebellar atrophy ORPHA:370921
Metachromatic Leukodystrophy
Tip-toe gait, Incoordination, Decerebrate rigidity, Tremor, Progressive spasticity, Frequent fall... ORPHA:512
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Truncal ataxia, Gliosis, Ataxia, Simplified gyral pattern, Partial ... OMIM:220111
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Cerebral atrophy, Decreased response to growth hormone stimulation test, Hippocampal atrophy, Cer... OMIM:618922
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Inability to walk, Dysdiadochokinesis, Tremor, Intention tremor, D... OMIM:208900
Biotinidase Deficiency
Diffuse cerebral atrophy, Ataxia, Lethargy, Diffuse cerebellar atrophy OMIM:253260
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Global brain atrophy, Inability to walk, Truncal ataxia, Cerebellar atrophy, Ventriculomegaly OMIM:620066
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Gliosis, Lateral ventricle dilatation, Ven... OMIM:615873
Arthrogryposis, Distal, Type 2A
Malignant hyperthermia, Cerebellar atrophy OMIM:193700
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Gliosis, Waddling gait, Agenesis of corpus... ORPHA:506358
Narcolepsy 3
Narcolepsy OMIM:609039
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebral cortical atrophy, Cerebellar atrophy, Ataxia ORPHA:496641
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Hypothermia, Impaired pain sensation, Adre... ORPHA:293987
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Narcolepsy 1
Narcolepsy OMIM:161400
Chédiak-Higashi Syndrome
Inability to walk, Brain atrophy, Atrophy of the spinal cord, Cerebellar atrophy, Gait disturbanc... ORPHA:167
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Abnormality of temperature regulation, Hypothermia, Inability to walk, Fever, Unsteady gait OMIM:618493
African Trypanosomiasis
Impaired proprioception, Akinesia, Difficulty walking, Narcolepsy, Periodic fever, Abnormal prola... ORPHA:3385
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebral atrophy, Choreoathetosis, Cerebellar atrophy, Patent ductus arteriosus OMIM:614080
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar hypoplasia, Hypothermia, Cerebellar atrophy OMIM:618329
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Gait ataxia, Cerebral cortical atrophy, Communicating hydrocephalus, Ventricu... OMIM:617011
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital sinus anomaly, Mic... ORPHA:1772
Narcolepsy 7
Narcolepsy OMIM:614250
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy OMIM:618541
Autosomal Dominant Progressive External Ophthalmoplegia
Bradykinesia, Cerebellar atrophy, Gait disturbance, Gait ataxia, Ataxia, Lethargy ORPHA:254892
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Neurodegeneration OMIM:309900
Slc39A8-Cdg
Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Inability to walk ORPHA:468699
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Cerebral atrophy, Dysdiadochokinesis, Cerebellar atrophy, Broad-based gait OMIM:618891
Chediak-Higashi Syndrome
Neurodegeneration, Ataxia, Gait disturbance OMIM:214500
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Fliedner-Zweier Syndrome
Cerebellar atrophy OMIM:620511
Pfapa Syndrome
Abnormality of temperature regulation ORPHA:42642
Knobloch Syndrome 1
Cerebral atrophy, Polymicrogyria, Cerebellar atrophy, Ataxia, Patent ductus arteriosus, Ventricul... OMIM:267750
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Dysdiadochokinesis, Cerebellar atrophy, Ataxia OMIM:612780
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Ataxia, Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:117300
Plaa-Associated Neurodevelopmental Disorder
Ventriculomegaly, Abnormal cortical gyration, Cerebellar cortical atrophy ORPHA:521426
Craniopharyngioma
Enlarged pituitary gland, Hydrocephalus, Pituitary hypothyroidism, Abnormal hypothalamus morpholo... ORPHA:54595
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Cerebellar vermis hypoplasia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, ... OMIM:617330
Alpha-Mannosidosis, Infantile Form
Subcortical cerebral atrophy, Cerebellar atrophy, Communicating hydrocephalus, Cerebral cortical ... ORPHA:309282
Trichothiodystrophy
Gait ataxia, Cerebral cortical atrophy, Diffuse cerebellar atrophy, Ventriculomegaly, Partial age... ORPHA:33364
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Episodic ataxia, Diffuse cerebral atrophy, Pachygyria, Choreoathetosis ORPHA:1934
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Cerebellar atrophy OMIM:619685
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of corpus callosum ORPHA:314621
White-Sutton Syndrome
Cerebral cortical atrophy, Subcortical cerebral atrophy, Cerebellar atrophy, Hypoplasia of the pons ORPHA:468678
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Neurodegeneration OMIM:253220
Intellectual Developmental Disorder, Autosomal Dominant 54
Inability to walk, Cerebellar atrophy, Ataxia OMIM:617799
Hurler Syndrome
Hydrocephalus, Neurodegeneration OMIM:607014
3-Methylglutaconic Aciduria, Type Viia
Cerebellar atrophy OMIM:619835
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Athetosis, Cerebellar atrophy, Partial absence of cerebellar vermis, Patent ductus arteriosus, Ve... ORPHA:280633
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Fever, Cerebellar atrophy, Lateral ventricle dilatation OMIM:618367
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebral atrophy, Global brain atrophy, Cerebellar atrophy, Ataxia OMIM:618426
Cockayne Syndrome A
Cerebral atrophy, Normal pressure hydrocephalus, Cerebellar atrophy, Gait disturbance, Ataxia, Ve... OMIM:216400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Ataxia, Dysmetria OMIM:616263
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Poorly formed metencephalon OMIM:601374
Congenital Disorder Of Glycosylation, Type Iie
Cerebral atrophy, Cerebellar atrophy OMIM:608779
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy OMIM:610131
Acute Transverse Myelitis
Impaired proprioception, Abnormality of temperature regulation, Dissociated sensory loss, Dysesth... ORPHA:139417
Cockayne Syndrome Type 1
Abnormality of temperature regulation, Difficulty walking, Ataxia, Gait disturbance ORPHA:90321
Developmental And Epileptic Encephalopathy 89
Cerebral atrophy, Cerebellar atrophy OMIM:619124
Mucopolysaccharidosis, Type Iiid
Difficulty walking, Cerebellar atrophy OMIM:252940
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Ataxia, Lethargy OMIM:252010
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tip-toe gait, Broad-based gait, Hydrocephalus, Falls, Fever, Recurrent fever, Ataxia, Ventriculom... OMIM:619475
Autosomal Dominant Optic Atrophy And Cataract
Positive Romberg sign, Cerebellar atrophy, Ataxia, Unsteady gait, Somatic sensory dysfunction, Pa... ORPHA:67036
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Dandy-Walker malformation, Cerebellar atrophy, Cerebellar dysplasia, Patent ductus arteriosus, Ve... ORPHA:487796
Smith-Lemli-Opitz Syndrome
Global brain atrophy, Chiari type I malformation, Hydrocephalus, Dandy-Walker malformation, Cereb... OMIM:270400
Beta-Thalassemia
Abnormality of temperature regulation ORPHA:848
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper ORPHA:457351
Argininemia
Spastic gait, Cerebellar atrophy OMIM:207800
Dyskeratosis Congenita, Autosomal Recessive 8
Cerebellar atrophy OMIM:620133
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Global brain atrophy, Cerebellar atrophy, Patent ductus arteriosus ORPHA:369837
Niemann-Pick Disease, Type C2
Ataxia, Neurofibrillary tangles OMIM:607625
Diets-Jongmans Syndrome
Gliosis OMIM:618846
Cutis Laxa, Autosomal Recessive, Type Iid
Gliosis OMIM:617403
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
9Q33.3Q34.11 Microdeletion Syndrome
Cerebellar vermis atrophy, Inability to walk, Patent ductus arteriosus ORPHA:495818
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation OMIM:619173
Williams Syndrome
Gait imbalance, Atrophy/Degeneration involving the corticospinal tracts, Gait disturbance, Cerebr... ORPHA:904
Coccidioidomycosis
Abnormality of the male genitalia, Abnormality of the female genitalia, Abnormal sperm morphology ORPHA:228123
Stuve-Wiedemann Syndrome 1
Impaired pain sensation, Fever, Abnormality of temperature regulation, Recurrent fever OMIM:601559
Skin Creases, Congenital Symmetric Circumferential, 1
Cerebellar vermis atrophy, Dandy-Walker malformation OMIM:156610
Aicardi-Goutieres Syndrome 7
Cerebral atrophy, Fever, Cerebellar atrophy OMIM:615846
Nijmegen Breakage Syndrome
Neurodegeneration, Glioma OMIM:251260
Alg9-Cdg
Cerebral atrophy, Cerebellar atrophy ORPHA:79328
Deeah Syndrome
Decreased response to growth hormone stimulation test, Abnormality of temperature regulation, Imp... OMIM:619004
Lathosterolosis
Chiari malformation, Cerebellar cortical atrophy ORPHA:46059
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, High nonceru... OMIM:277900
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Cerebellar atrophy OMIM:301030
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of temperature regulation, Subcortical cerebral atrophy, Cerebral cortical atrophy, A... ORPHA:2273
Monosomy 22Q13.3
Impaired pain sensation, Cerebellar cortical atrophy, Agenesis of corpus callosum ORPHA:48652
Heterotaxy, Visceral, 5, Autosomal
Cerebral atrophy, Cerebellar hypoplasia, Cerebellar atrophy, Patent ductus arteriosus OMIM:270100
Chronic Mucocutaneous Candidiasis
Abnormality of temperature regulation ORPHA:1334
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Cerebellar atrophy OMIM:210730
Intellectual Developmental Disorder, Autosomal Dominant 73
Cerebellar vermis hypoplasia, Cerebellar vermis atrophy, Tip-toe gait OMIM:620450
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:304150
Norrie Disease
Cerebral cortical atrophy, Abnormality of the diencephalon, Aplasia/Hypoplasia of the cerebellum ORPHA:649
Ulnar-Mammary Syndrome
Abnormality of temperature regulation ORPHA:3138
Cystic Fibrosis
Male infertility OMIM:219700
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Cerebellar cortical atrophy OMIM:619321
Primrose Syndrome
Ventriculomegaly, Neurodegeneration, Ataxia OMIM:259050
Central Hypoventilation Syndrome, Congenital, 1
Abnormality of temperature regulation OMIM:209880
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus, Abnormality of temperature regulation ORPHA:667
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus, Cerebellar atrophy OMIM:175780
Wrinkly Skin Syndrome
High nonceruloplasmin-bound serum copper ORPHA:2834
Cancer-Associated Retinopathy
Diffuse cerebellar atrophy ORPHA:71505
Familial Alzheimer-Like Prion Disease
ORPHA:280397

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Prnp

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Prnp.

No publications found that use IMPC mice or data for Prnp.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Prnptm256932(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Prnptm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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