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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,  Prn-p,  PrP,  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
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
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 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
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
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
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 17
Male infertility OMIM:617214
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Candidiasis, Familial, 4
Onychomycosis, Recurrent vulvovaginal candidiasis OMIM:613108
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception 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
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity ORPHA:217012
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent 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
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... OMIM:617018
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... ORPHA:98765
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... OMIM:615268
Neuhauser-Eichner-Opitz Syndrome
Rigidity, Spasticity, Hypertonia, Ataxia ORPHA:2672
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking ORPHA:85292
Glioma Susceptibility 1
Glioblastoma multiforme, Astrocytoma, Ependymoma OMIM:137800
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor OMIM:601238
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance ORPHA:98766
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Hoffmann sign, Babinski sign, Spastic paraplegia, Impaired vibration sensation in the low... OMIM:615625
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... ORPHA:101108
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... ORPHA:94122
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cerebellar agenesis ORPHA:1397
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady... ORPHA:101010
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia OMIM:611031
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
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
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy OMIM:615957
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus OMIM:616187
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Babinski sign, Impaired distal vibrat... OMIM:619742
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... ORPHA:423275
Dystonia 23
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia OMIM:611694
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... OMIM:616291
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor OMIM:618876
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor OMIM:608029
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... OMIM:302500
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ... ORPHA:276193
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Somatic sensory dysfunction, Unsteady gait, Abnormal pyramidal sign, Impaired proprioception, Lim... ORPHA:95434
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Autosomal Spastic Paraplegia Type 72
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles ORPHA:401849
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Ataxia, Apraxia ORPHA:85338
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, D... ORPHA:401820
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... ORPHA:210571
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... OMIM:600143
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... OMIM:613728
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... OMIM:616127
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in central nervous ... OMIM:143100
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,... OMIM:618090
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Hypoesthesia, Chorea, Dysmetria, Bradykinesia, Thalamic calcification, Brain atrophy OMIM:618317
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... OMIM:610185
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ... ORPHA:98811
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Cerebral degeneration, Ataxia OMIM:260970
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia OMIM:614322
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia OMIM:615705
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Ataxia, Simplified gyral pattern, Ventriculomegaly OMIM:613402
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:617145
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ... OMIM:610357
Microlissencephaly
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Polymicrogyria, Simplif... ORPHA:1083
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia... ORPHA:521406
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ... OMIM:117360
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance ORPHA:228169
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait OMIM:618387
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegener... OMIM:610951
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Head tremor OMIM:619988
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
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
Spinocerebellar Ataxia 27B, Late-Onset
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Impaired vi... OMIM:607565
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the pons, Dysgyria, Pachygyria, Abnormal thal... ORPHA:467166
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... OMIM:607346
X-Linked Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive... ORPHA:1175
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... OMIM:618093
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, ... ORPHA:453521
Chorea, Benign Familial
Chorea OMIM:215450
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... ORPHA:101109
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Spastic dysarthr... ORPHA:401830
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Autosomal Recessive Spastic Paraplegia Type 32
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Difficulty walking, Ce... ORPHA:171622
Spinocerebellar Ataxia 4
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... OMIM:600223
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Cerebral atrophy, Lissencephaly, Pachygyria, Polymicrogyria, Ventriculomegaly OMIM:618730
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... ORPHA:71517
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... ORPHA:53583
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, ... OMIM:300423
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Gliosis, Global brain atrophy OMIM:236792
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot... OMIM:615362
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di... ORPHA:98764
Dandy-Walker Syndrome
Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Tr... OMIM:220200
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... OMIM:619028
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Chorea, Dysmetria, Gait a... OMIM:607136
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Abnormal cerebellum morphology, Kinetic tremor OMIM:190310
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor OMIM:617863
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Degeneration of the... OMIM:609161
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Babinski ... OMIM:617225
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ata... OMIM:616230
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation OMIM:617916
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Involuntary movements OMIM:616939
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign OMIM:617770
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Corpus callosum atrophy, Bradykinesia, Gait disturbance, Shuffling g... OMIM:221820
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Astrocytosis, Gait disturbance, Atrophy/Dege... ORPHA:225154
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Lo... OMIM:256731
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... OMIM:616204
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity OMIM:616494
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Cerebe... ORPHA:314603
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... ORPHA:512260
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... OMIM:605259
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Diaminopentanuria
Neurodegeneration, Spasticity, Ataxia OMIM:222350
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia ORPHA:98809
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Ventriculomegaly, Ataxia, Cerebral atrophy OMIM:613925
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Cerebellar hypoplasia, Limb dystonia OMIM:620270
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Broad-based gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar hypo... OMIM:224050
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... ORPHA:208513
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... OMIM:619806
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:352403
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia OMIM:617836
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Alexander Disease Type I
Cerebellar atrophy, Hydrocephalus, Ataxia, Abnormal thalamic MRI signal intensity ORPHA:363717
Spastic Paraplegia 32, Autosomal Recessive
Cerebellar atrophy, Difficulty walking, Spastic gait, Cerebral atrophy OMIM:611252
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, Dysplastic corpus callosum... OMIM:618276
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... OMIM:615528
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401835
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Intention tremor OMIM:620221
Cach Syndrome
Cerebellar atrophy, T2 hypointense thalamus, Cerebellar vermis atrophy, Truncal ataxia, Cerebral ... ORPHA:135
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... OMIM:617633
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... OMIM:600363
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Bradykinesia, Cerebellar calcifications, Thalamic calcification, Limb ataxia OMIM:618824
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Gait ataxia, Atrophy/Degeneration affecting the brainstem, ... OMIM:617862
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Writer's cramp, Involuntary movements, Rig... ORPHA:98759
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,... ORPHA:1170
Spinocerebellar Ataxia 5
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... OMIM:600224
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... ORPHA:216873
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Dys... OMIM:618088
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system ORPHA:204
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria OMIM:619191
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Cerebellar atrophy, Ventriculomegaly, Gait ataxia OMIM:619323
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr... OMIM:617810
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Cerebellar hypoplasia, Pachygyria, Ag... ORPHA:168486
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Cerebral atrophy, Truncal ataxia OMIM:611726
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... ORPHA:139485
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Ba... OMIM:609270
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Gait ataxia, Gait disturbance, Gait imbalance, Gliosis, Cereb... OMIM:618369
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Spinocerebellar Ataxia Type 2
Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella... ORPHA:98756
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr... OMIM:210000
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Cerebellar hypoplasia, Simplified gyral pattern, Decreased thalamic volume, Cerebral cortical atr... OMIM:619072
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Hemimegalencephaly
Abnormal neuron morphology, Gray matter heterotopia, Gliosis, Pachygyria, Polymicrogyria, Ventric... ORPHA:99802
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy OMIM:618501
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia OMIM:614706
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Neuronal loss in central nervous system, Gait disturbance, Cerebral cortical atrophy, Astrocytosis OMIM:600795
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Inability to walk, Partial agenesis of the corpus callosum, Cerebellar gliosis, Cerebral ... ORPHA:79243
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Nescav Syndrome
Cerebellar atrophy, Ataxia, Inability to walk, Cerebral atrophy, Cerebellar vermis atrophy OMIM:614255
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemisphere hypoplasia,... OMIM:615095
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Cerebellar vermis atrophy OMIM:618185
Sodium-Dependent Multivitamin Transporter Deficiency
Cerebellar atrophy, Polymicrogyria, Hypoplasia of the pons, Cerebral atrophy OMIM:618973
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Ataxia, Inability to walk, T2 hypointense thalamus, Unsteady gait, Cerebral a... ORPHA:1947
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Fus... OMIM:617542
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age... OMIM:615771
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Inherited Creutzfeldt-Jakob Disease
Chorea, Gait ataxia, Central nervous system degeneration, Bradykinesia, Progressive cerebellar at... ORPHA:282166
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Chorea, Cerebellar calcifications, Thalamic calcification OMIM:615483
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Distal sensory impairment, Degeneration of anterior horn cells, Gait disturb... OMIM:604484
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Spinocerebellar Ataxia Type 43
Unsteady gait, Limb ataxia, Gait ataxia, Distal sensory impairment, Progressive cerebellar ataxia... ORPHA:497764
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Inability to walk, Cerebellar vermis atrophy OMIM:619389
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... OMIM:616710
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Caudate atrophy, Gait disturbance, Cerebral cortical atrophy OMIM:618193
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Inability to walk, Cerebral atrophy OMIM:618468
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Fasciculations ORPHA:65684
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Babinski sign, Spastic p... OMIM:614409
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal cerebellar verm... ORPHA:33445
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Abnormal cerebellar cortex morphology, Gait ataxia, Distal sensory impai... ORPHA:101111
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Gliosis OMIM:300857
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Dystonia, Spasticity, Apraxia OMIM:615889
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Babinski sign, Spastic para... ORPHA:100988
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... ORPHA:248111
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Joubert Syndrome 25
Oculomotor apraxia, Ataxia, Cerebellar hypoplasia OMIM:616781
Spinocerebellar Ataxia 2
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,... OMIM:183090
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... ORPHA:98772
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor ORPHA:98771
Huntington Disease-Like 1
Cerebellar atrophy, Chorea, Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Gliosis, Cere... ORPHA:157941
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Gray matter heterotopia, Tip-toe gait, Difficulty walking, Pachygyria, Ventri... ORPHA:370980
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Spinocerebellar Ataxia 34
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... OMIM:133190
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins... OMIM:615157
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia OMIM:612020
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... ORPHA:251347
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Spastic paraparesis ORPHA:329284
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Vestibular areflexia, Babinski sign, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... ORPHA:504476
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Cerebral atrophy, Neurodegeneration, Gliosis, Neuronal... OMIM:256600
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor... ORPHA:79263
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... ORPHA:370022
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s... ORPHA:93952
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Ventriculomegaly, Olivopontocereb... ORPHA:370959
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Decreased thalamic volume OMIM:618646
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Cerebellar vermis hypoplasia, Inability to walk, Partial agenesis of the corpus c... ORPHA:300570
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebellar atrophy, Spastic ataxia, Impaired distal proprioception, Tremor, Abnormal cerebellum m... ORPHA:137898
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Spinocerebellar Ataxia Type 36
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, Dysmetria... ORPHA:276198
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... OMIM:612438
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Cerebral atrophy, Lateral ventricle dilatation, Gait disturbance, Gliosis, Abnor... OMIM:221770
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, H... OMIM:617435
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Developmental And Epileptic Encephalopathy 14
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy OMIM:614959
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebellar atrophy, Chorea, Athetosis, Cerebellar hypoplasia, Temperature instability, Cerebral c... OMIM:619922
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... OMIM:215470
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, D... OMIM:302800
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Spinocerebellar Ataxia 6
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... OMIM:183086
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus OMIM:612016
Peroxisome Biogenesis Disorder 8B
Cerebellar atrophy, Lower limb spasticity, Ataxia, Clonus, Rigidity, Dysesthesia, Babinski sign, ... OMIM:614877
Stxbp1-Related Encephalopathy
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb a... OMIM:208920
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia ORPHA:330050
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... OMIM:604391
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py... ORPHA:101070
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Partial agenesis of the ... OMIM:616171
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Cerebellar atrophy, Brain atrophy OMIM:618741
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,... OMIM:611390
Myoclonic Epilepsy, Familial Infantile
Ataxia, Impaired tandem gait, Limb ataxia, Gait ataxia OMIM:605021
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Diffuse cerebral atrophy, Decreased thalamic volume OMIM:613668
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Gait disturbance, Astrocytosis ORPHA:275864
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Gait ataxia, Hemiparesis, Myocl... OMIM:123400
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S... OMIM:614487
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy OMIM:610003
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Distal sensory impairment OMIM:604218
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Chorea, Ataxia OMIM:618683
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy, Gliosis,... OMIM:105550
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,... OMIM:615491
Huntington Disease-Like 1
Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria, Global brain atrophy OMIM:603218
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Progres... ORPHA:275872
Familial Paroxysmal Ataxia
Torticollis, Ataxia, Dystonia, Hemiplegia, Cerebellar vermis atrophy ORPHA:97
Chudley-Mccullough Syndrome
Cerebellar hypoplasia, Cerebellar dysplasia OMIM:604213
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Inability to walk, Waddling gait OMIM:616269
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Cerebellar atrophy, Inability to walk, Agenesis of corpus callosum OMIM:618324
Familial Acute Necrotizing Encephalopathy
Fever, Abnormal thalamus morphology, Gait disturbance, Gliosis ORPHA:88619
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Neurodegeneration, Cerebellar hypoplasia, Brain atr... OMIM:214150
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance ORPHA:99014
Autosomal Recessive Spastic Paraplegia Type 74
Cerebellar atrophy, Difficulty walking ORPHA:468661
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Ataxia, Gliosis, Ventriculomegaly OMIM:612936
Spinocerebellar Ataxia With Epilepsy
Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Focal T2 hyperintense ... ORPHA:254881
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Cerebra... OMIM:607250
Gordon Holmes Syndrome
Cerebellar atrophy, Chorea, Ataxia, Cerebral atrophy OMIM:212840
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Polymicrogyria, Ventriculomegaly OMIM:614254
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... OMIM:618598
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology, Difficulty walking ORPHA:397725
Peho-Like Syndrome
Cerebellar atrophy, Lissencephaly, Pachygyria, Polymicrogyria, Ventriculomegaly OMIM:617507
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Lethargy, Basal ganglia gliosis, Ne... OMIM:604377
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Non-periodic recurrent fever, Cerebral atrophy, Focal T2 hyperintense thalami... ORPHA:79264
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Cerebral atrophy OMIM:619057
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Gray matter heterotopia, ... ORPHA:300573
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Impaired vibration sen... OMIM:605361
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady ... ORPHA:228360
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... OMIM:137440
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Cerebral atrophy, Waddling gait OMIM:619090
Spinocerebellar Ataxia 21
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Co... OMIM:607454
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormality of neuronal migration, ... OMIM:300957
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia OMIM:613909
Leukoencephalopathy With Vanishing White Matter 1
Fever, Unsteady gait, Gait disturbance, Gliosis, Lethargy OMIM:603896
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait ataxia, Cerebellar hypoplasia, Ga... ORPHA:488635
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia ORPHA:306669
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... OMIM:618060
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... OMIM:618877
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Gliosis, Cerebellar hypo... OMIM:225753
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ... OMIM:607694
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... OMIM:617013
Machado-Joseph Disease
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Limb ataxia, ... OMIM:109150
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc... ORPHA:529665
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Cerebellar atrophy OMIM:615596
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal... OMIM:300623
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity, Dense calcificat... ORPHA:542310
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... OMIM:128100
Spastic Paraplegia 75, Autosomal Recessive
Cerebellar atrophy, Corpus callosum atrophy, Impaired distal vibration sensation, Dysmetria, Loss... OMIM:616680
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar atrophy, Impaired vibratory sensation, Abnormal cerebellar peduncle morphology, Cerebe... ORPHA:98
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplif... OMIM:616212
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Ataxia, Unsteady gait, Choreoathetosis, Gait imbalance OMIM:301020
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Chorea, Cerebral atrophy, Choreoathetosis, Gait disturbance OMIM:616981
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnor... ORPHA:289494
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Di... OMIM:616505
Spinocerebellar Ataxia Type 10
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Babinski sign, Unsteady gait, Dysmetri... ORPHA:98761
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Rigidity, Tremor, Bradykinesia, Spastic par... OMIM:300894
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... ORPHA:101077
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste... ORPHA:98760
Congenital Disorder Of Glycosylation, Type Iiz
Diffuse cerebellar atrophy OMIM:620201
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Abnormal thalamic MRI signal intens... ORPHA:70595
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Cerebral atrophy, Chorea, Cerebellar vermis atrophy OMIM:613811
Developmental And Epileptic Encephalopathy 98
Cerebellar atrophy, Perisylvian polymicrogyria, Cerebral atrophy OMIM:619605
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Ataxia, Cerebral cortical atrophy, Difficulty walking OMIM:619425
Spinocerebellar Ataxia 27A
Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abno... OMIM:193003
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Ataxia, Cerebellar hypoplasia, Atrophy/Degeneration affecting the brainstem OMIM:619971
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Pick Disease Of Brain
Gliosis OMIM:172700
New-Onset Refractory Status Epilepticus
Fever, Cerebellar edema, Abnormal thalamic MRI signal intensity, Global brain atrophy ORPHA:363558
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athetosis, Abno... ORPHA:280219
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Neurodegeneration, Difficulty walking,... OMIM:612319
Mast Syndrome
Cerebellar atrophy, Cerebral atrophy, Athetosis, Dysdiadochokinesis, Gait disturbance OMIM:248900
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... OMIM:619725
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Impaired distal proprioception, Cerebellar vermis atrophy, Impaired v... ORPHA:94124
Lissencephaly, X-Linked, 2
Lissencephaly, Gliosis, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly OMIM:300215
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Cerebellar atrophy, Ataxia OMIM:618879
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Inability to walk, Chorea, Cerebral atrophy, Neurodegeneration, Cereb... OMIM:617672
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxia,... OMIM:615960
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Ataxia OMIM:617207
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Chorea, Cerebral atrophy, Athetosis, Atrophy/Degeneration affecting the brain... OMIM:617493
Neuroferritinopathy
Caudate atrophy, T2 hypointense thalamus, Chorea, Abnormal thalamic MRI signal intensity, Bradyki... ORPHA:157846
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Ataxia, Inability to walk, Dysmetria, Atrophy/Degeneration affecting the brai... OMIM:617954
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Frequent falls OMIM:615217
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Difficulty walking, Astrocytosis OMIM:611087
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Spasticity OMIM:609260
Huntington Disease-Like 2
Rigidity, Chorea, Bradykinesia, Dystonia, Action tremor OMIM:606438
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... ORPHA:64753
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Inability to walk, Athetosis, Gait disturbance, Loss of ambulation, Ventricul... OMIM:618241
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Chorea, Cerebral atrophy, Gait ataxia, Neurodegeneration, Gliosis, Recurrent fever, Letha... OMIM:618321
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... OMIM:113610
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Eyelid myoclonu... ORPHA:2590
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Focal T2 hyperintense thalamic lesion OMIM:613724
Intellectual Developmental Disorder, X-Linked 104
Tremor, Spasticity, Ataxia OMIM:300983
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok... OMIM:614381
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Ataxia, Hydrocephalus, Abnor... ORPHA:59315
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Gerstmann-Straussler-Scheinker Syndrome
Dysesthesia, Abnormal cerebellum morphology, Gait ataxia, Abnormality of extrapyramidal motor fun... ORPHA:356
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia, Retinal telangiectasia ORPHA:438134
Fatty Acyl-Coa Reductase 1 Deficiency
Cerebellar atrophy, Inability to walk, Dandy-Walker malformation ORPHA:438178
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebellar atrophy, Broad-based gait, Ataxia, Unsteady gait, Dysmetria, Gait disturbance, Positiv... OMIM:616479
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... OMIM:261640
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,... ORPHA:247234
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Cerebellar hypoplasia, Hypoplasia of the pons OMIM:619303
Leukodystrophy, Hypomyelinating, 14
Cerebellar atrophy, Cerebral atrophy OMIM:617899
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Neurodegeneration, Gliosis, Neuronal loss in central nervous system, Agenesis... OMIM:616239
Tay-Sachs Disease
Cerebellar atrophy, Ventriculomegaly, Inability to walk, Abnormal thalamic MRI signal intensity, ... ORPHA:845
Leukodystrophy, Hypomyelinating, 21
Cerebellar atrophy, Athetosis, Corpus callosum atrophy, Ataxia OMIM:619310
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Broad-based gait, Dysmetria, Retrocerebellar cyst, Progressive cerebe... ORPHA:363429
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Gait ataxia, Cerebral atrophy, Dysmetria ORPHA:320385
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Chorea, Loss of Purkinje cells in the cerebellar vermis, Impaired propriocept... ORPHA:98755
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Spastic paraparesis ORPHA:391417
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B... ORPHA:458803
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking ORPHA:477673
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... OMIM:277460
Pontocerebellar Hypoplasia, Type 6
Cerebellar atrophy, Cerebellar vermis hypoplasia, Cerebral atrophy, Cerebellar hypoplasia, Brain ... OMIM:611523
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Leukoencephalopathy With Ataxia
Action tremor, Limb ataxia, Gait ataxia OMIM:615651
Spastic Paraplegia 7, Autosomal Recessive
Cerebellar atrophy, Waddling gait, Spastic ataxia, Degeneration of the lateral corticospinal trac... OMIM:607259
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ... ORPHA:401768
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Cerebellar atrophy, Tip-toe gait, Cerebral atrophy ORPHA:496689
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Tip-toe gait, Neurodegeneration, Gait disturbance OMIM:615643
Christianson Syndrome
Cerebellar atrophy, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the cerebellum, Neuronal l... ORPHA:85278
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormal thalamus morphology ORPHA:557003
Atypical Rett Syndrome
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... ORPHA:3095
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign,... OMIM:606002
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance OMIM:603472
Gillespie Syndrome
Cerebellar atrophy, Ataxia, Postural tremor, Slurred speech, Cerebellar hypoplasia OMIM:206700
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula... ORPHA:90117
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Cerebellar atrophy, Inability to walk, Ataxia, Gait ataxia OMIM:617915
Pelizaeus-Merzbacher Disease, Connatal Form
Ataxia, Inability to walk, Dystonic gait, Macrogyria, Gliosis, Cerebellar hypoplasia, Difficulty ... ORPHA:280210
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Impaired vibration sensation in the lower limbs, Dysme... OMIM:159550
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Ataxia, Athetosis, Atrophy/Degeneration affecting the brainstem, Loss of ambu... OMIM:271245
Congenital Disorder Of Glycosylation, Type Iin
Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Inability to walk OMIM:616721
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:616531
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Fever, Somatic sensory dysfunction, Gait ataxia, Progressive cerebellar ataxia, Paresthesia, Cere... ORPHA:466794
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins... OMIM:614298
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Gliosis, Atrophy/Degeneration aff... OMIM:614946
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Tetraplegia, D... OMIM:616267
Supranuclear Palsy, Progressive, 1
Akinesia, Cerebral atrophy, Granulovacuolar degeneration, Bradykinesia, Astrocytosis, Falls, Gait... OMIM:601104
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Broad-based gait, Spastic tetraparesis OMIM:619470
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Ataxia OMIM:300619
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil... OMIM:607483
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia OMIM:619556
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Perisylvian polymicrogyria, Frontotemporal cerebral atrophy, Atrophy/Degenera... OMIM:619606
Leukodystrophy, Hypomyelinating, 17
Cerebellar atrophy, Inability to walk, Cerebral atrophy OMIM:618006
Leigh Syndrome
Cerebellar atrophy, Ataxia, Chorea, Abnormal thalamic MRI signal intensity, Choreoathetosis, Athe... ORPHA:506
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology, Patent ductus arteriosus, Ataxia ORPHA:435638
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Athetosis, Ataxia, Cerebral cortical atrophy OMIM:614559
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Ataxia, Hydrocephalus, Cerebral atrophy, Choreoathetosis, Colpocephaly, Ventr... OMIM:616034
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Dilated fourth ventricle, Abnormality... ORPHA:276244
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Temporal cortical atrophy, Astrocytosis, Frontotemporal c... ORPHA:100070
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Choreoathetosis, Ataxia, Dilated fourth ventricle, Cerebellar vermis atrophy OMIM:619054
Progressive Supranuclear Palsy
Unsteady gait, Bradykinesia, Falls, Gliosis, Neuronal loss in central nervous system, Cerebral co... ORPHA:683
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Ataxia, Gait disturbance ORPHA:85317
Joubert Syndrome 30
Cerebellar atrophy, Ventriculomegaly, Gray matter heterotopia, Superior cerebellar dysplasia, Dan... OMIM:617622
Galloway-Mowat Syndrome 2, X-Linked
Cerebellar atrophy, Polymicrogyria, Cerebral atrophy, Dysmetria OMIM:301006
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Difficulty walking, Myoclonus... OMIM:159950
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... OMIM:311510
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Ataxia, Cerebral atrophy, Distal sensory impairment, Bradykinesia, Paresthesi... ORPHA:254886
Combined Oxidative Phosphorylation Defect Type 7
Ataxia, Inability to walk, Abnormal thalamic MRI signal intensity, Impaired tandem gait, Distal s... ORPHA:254930
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Athetosis, Gait disturbance OMIM:618141
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Ataxia, Cerebral atrophy, Gait disturbance, Acroparesthesia ORPHA:309162
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Impaired temperature sensation, Impaired propri... OMIM:619686
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Ataxia, Dilated third ventricle, Narcolepsy, Cerebral atrophy, Atrophy/Degene... ORPHA:314404
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Lateral ventricle dilatation, Gliosis, Neuronal loss in central nervous ... OMIM:607485
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Inability to walk, Gliosis, Atrophy/Degener... OMIM:617193
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... OMIM:312080
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gliosis, Gait disturbance, Decreased response to growth hormone stimulation test, Cerebellar dysp... ORPHA:457240
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Corpus callosum atrophy, Abnormal cerebellum morphology, Ataxia, Gliosis OMIM:169500
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Neu... OMIM:610127
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Developmental And Epileptic Encephalopathy 44
Cerebellar atrophy, Athetosis, Cerebral atrophy OMIM:617132
Perrault Syndrome 1
Cerebellar atrophy, Increased circulating gonadotropin level, Ataxia, Gait ataxia OMIM:233400
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the brainstem OMIM:618404
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Neuronal loss in central nervous system, Gliosis, Hypothermia OMIM:614498
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia ORPHA:70594
Cystathioninuria
Tremor ORPHA:212
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Gait disturbance, Aplasia/Hypoplasia of the cerebellum ORPHA:2585
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Choreoathetosis, Cerebellar hypoplasia, Dystonia OMIM:619422
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... OMIM:618056
Japanese Encephalitis
Fever, Paucity of anterior horn motor neurons, Choreoathetosis, Abnormal pons morphology, Focal T... ORPHA:79139
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis OMIM:608033
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Cerebellar atrophy, Inability to walk OMIM:617086
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia OMIM:610743
Cog7-Cdg
Cerebellar atrophy, Subcortical cerebral atrophy, Recurrent fever, Brain atrophy ORPHA:79333
Spinocerebellar Ataxia 28
Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia OMIM:610246
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Spastic Ataxia 9, Autosomal Recessive
Impaired distal vibration sensation, Ataxia, Cerebellar vermis atrophy, Dysmetria OMIM:618438
Charcot-Marie-Tooth Disease And Deafness
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment OMIM:118300
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Atrophy of the spinal cord, Cerebral atrophy, Gait ataxia, Sensory ataxia, At... ORPHA:445062
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Tip-toe gait, Difficulty walking, Pachygyria, Ventriculomegaly, Cerebellar cyst OMIM:606612
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocerebellar atrophy, Progressiv... ORPHA:95433
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia OMIM:618917
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Machado-Joseph Disease Type 1
Cerebellar atrophy, Dilated fourth ventricle, Abnormality of temperature regulation, Substantia n... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Dilated fourth ventricle, Abnormality of temperature regulation, Substantia n... ORPHA:276241
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebellar atrophy, Difficulty walking, Cerebral cortical atrophy, Waddling gait ORPHA:280763
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Ataxia ORPHA:3350
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Gait disturbance, Tremor ORPHA:1192
Spastic Paraplegia Type 7
Cerebellar atrophy, Somatic sensory dysfunction, Impaired vibration sensation in the lower limbs,... ORPHA:99013
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... OMIM:616586
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Cerebellar atrophy, Ataxia, Dysmetria OMIM:618384
Acute Disseminated Encephalomyelitis
Fever, Somatic sensory dysfunction, Ataxia, Abnormal cerebellum morphology, Abnormal thalamic MRI... ORPHA:83597
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal sensory impairment OMIM:607734
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism ORPHA:178509
Hereditary Methemoglobinemia
Cerebellar atrophy, Temporal cortical atrophy, Athetosis, Frontal cortical atrophy, Global brain ... ORPHA:621
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Cerebral atrophy OMIM:619690
Leigh Syndrome
Ataxia, Gliosis, Hepatocellular necrosis OMIM:256000
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Broad-based gait, Ataxia, Chorea, Frontotemporal cerebral atrophy, Difficulty... ORPHA:79097
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Cerebellar atrophy, Broad-based gait, Ataxia, Dysmetria OMIM:618098
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Ataxia OMIM:619046
Myopathy With Extrapyramidal Signs
Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrapyramidal motor ... OMIM:615673
Crigler-Najjar Syndrome Type 1
Tremor ORPHA:79234
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Ataxia, Periventricular heterotopia, Hydrocephalus, Chiari type I malformation,... OMIM:618476
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus OMIM:619092
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Ataxia, Dysesthesia, Cerebral atrophy, Difficulty walking ORPHA:527497
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia OMIM:614306
Congenital Disorder Of Glycosylation, Type Iih
Cerebellar atrophy, Ataxia, Ventriculomegaly OMIM:611182
Pontocerebellar Hypoplasia, Type 2A
Hypoplasia of the pons, Chorea, Gliosis, Cerebellar hypoplasia, Cerebral cortical atrophy OMIM:277470
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Gait disturbance, Shuffling gait, Gliosis, Loss of ambulation, Global brain atrophy OMIM:168601
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Unsteady gait, Ataxia OMIM:300861
Aceruloplasminemia
Ataxia, Akinesia, Chorea, Abnormal thalamic MRI signal intensity, Limb ataxia, Gait ataxia, Abnor... ORPHA:48818
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Lethargy, Ataxia, Brain atrophy OMIM:618226
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:613155
Spinocerebellar Ataxia 25
Cerebellar atrophy, Abolished vibration sense, Ataxia, Impaired pain sensation OMIM:608703
Episodic Ataxia, Type 6
Cerebellar atrophy, Episodic ataxia, Cerebellar hypoplasia, Truncal ataxia OMIM:612656
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Progressive cerebellar ataxia, Progressive truncal ataxia, Cerebral atrophy ORPHA:263516
Progeria-Short Stature-Pigmented Nevi Syndrome
Broad-based gait, Abnormal thalamus morphology, Paresthesia ORPHA:2959
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Corpus callosum atrophy, Lateral ventricle dilatation, Abnormal pons mo... ORPHA:77299
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal... ORPHA:89844
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Cerebral atrophy OMIM:616286
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Astrocytosis, Pontocerebellar atrophy, Lissencephaly, Pachygyria ORPHA:258
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Corpus callosum atrophy, Brain atrophy, Cerebral cortical atrophy, Recurrent ... ORPHA:369939
Congenital Disorder Of Glycosylation, Type Iii
Cerebellar atrophy, Truncal ataxia, Cerebral atrophy, Atrophy/Degeneration affecting the brainstem OMIM:613612
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dyston... OMIM:617710
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Ataxia, Inability to walk, Limb ataxia, Gait disturbance OMIM:617166
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Limb ataxia, Dysmetria, Progressive cerebellar ataxia, Progressive gait ataxi... ORPHA:284289
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebral atrophy, Diffuse cerebellar atrophy ORPHA:352596
Spinocerebellar Ataxia 10
Cerebellar atrophy, Limb ataxia, Dysmetria, Bradykinesia, Gait ataxia, Progressive cerebellar ata... OMIM:603516
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Episodic Ataxia Type 6
Cerebellar atrophy, Ataxia ORPHA:209967
Hydranencephaly
Dysgenesis of the thalamus, Thalamic edema, Lethargy, Cerebral cortical atrophy, Ventriculomegaly... ORPHA:2177
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Ataxia, Cerebral atrophy, Dysmetria, Cerebellar vermis atrophy OMIM:618170
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Ataxia, Cerebral atrophy, Gait disturbance, Atrophy/Degeneration affecting th... OMIM:615838
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Shuffling gait ORPHA:3077
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus... OMIM:614833
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Tetrapa... ORPHA:363400
Cln3 Disease
Cerebellar atrophy, Ataxia, Bradykinesia, Generalized cerebral atrophy/hypoplasia, Shuffling gait... ORPHA:228346
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Ataxia OMIM:271980
Spinocerebellar Ataxia 1
Dilated fourth ventricle, Impaired vibratory sensation, Impaired pain sensation, Chorea, Impaired... OMIM:164400
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cerebral atrophy, Dandy-Walker malformation, Cerebellar vermis atrophy OMIM:616154
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168600
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Cerebral cortical neurodegeneration, Cerebral atrophy, Astrocytosis, ... OMIM:203700
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity OMIM:616840
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Cerebellar atrophy, Limb ataxia, Truncal ataxia OMIM:617560
Pontocerebellar Hypoplasia, Type 3
Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasia, Atrophy/Dege... OMIM:608027
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Unsteady gait, Retinal hemorrhage, Astrocy... ORPHA:90324
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Patent ductus arteriosus, Ventriculomegaly, Cerebral atrophy OMIM:619797
Supranuclear Palsy, Progressive, 2
Akinesia, Neurofibrillary tangles, Granulovacuolar degeneration, Bradykinesia, Falls, Gait imbala... OMIM:609454
Krabbe Disease
Diffuse cerebral atrophy, Neurodegeneration, Hydrocephalus, Recurrent fever OMIM:245200
Aminoacylase 1 Deficiency
Cerebellar atrophy, Cerebral cortical atrophy, Cerebral atrophy OMIM:609924
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia ORPHA:36387
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Neurofibrillary tangles, Chorea, Cerebral atrophy, Gait ataxia, Dysmetria, Br... OMIM:610217
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity, Cerebral cortical atrophy ORPHA:309155
Developmental And Epileptic Encephalopathy 65
Cerebellar atrophy, Ventriculomegaly, Cerebral atrophy OMIM:618008
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Cerebellar hypoplasia ORPHA:313772
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Hydrocephalus, Ventriculomegaly, Cerebral atrophy OMIM:610333
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Abnormal thalamic MRI signal intensity ORPHA:485421
Panhypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95513
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc... ORPHA:442835
Pontocerebellar Hypoplasia, Type 2B
Cerebellar atrophy, Cerebellar vermis hypoplasia, Chorea, Simplified gyral pattern, Cerebral atro... OMIM:612389
Leukodystrophy, Hypomyelinating, 15
Cerebellar atrophy, Ataxia, Cerebral atrophy, Athetosis, Loss of ambulation OMIM:617951
Peroxisome Biogenesis Disorder 6B
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Unsteady gait, Impaired distal vibratio... OMIM:614871
Mucolipidosis Iv
Cerebellar atrophy, Dysplastic corpus callosum OMIM:252650
Liang-Wang Syndrome
Cerebellar atrophy, Ataxia, Cerebral atrophy OMIM:618729
Sneddon Syndrome
Tremor, Chorea, Hemiparesis ORPHA:820
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy OMIM:618237
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Limb ataxia, Gait ataxia, Gliosis, Cerebral cortical... OMIM:248500
Adenohypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95512
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Fasciculations, ... OMIM:620327
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, Impaired vibratio... ORPHA:447753
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Cerebellar atrophy, Narcolepsy, Ataxia OMIM:604121
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Corpus callosum atrophy, Hypoplasia of the pons, Unsteady gait, Impaired prop... ORPHA:412057
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:615181
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Harel-Yoon Syndrome
Cerebellar atrophy, Inability to walk, Ataxia OMIM:617183
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Ataxia, Loss of Purkinje cells in the cerebellar verm... OMIM:270550
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Limb ata... OMIM:258450
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Choreoathetosis, Cerebral atrophy OMIM:618247
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebellar atrophy, Inability to walk, Cerebral cortical atrophy OMIM:617481
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Positive Romberg sign, Cerebellar vermis at... OMIM:614575
Srd5A3-Cdg
Cerebellar atrophy, Ataxia, Decreased response to growth hormone stimulation test, Abnormal cereb... ORPHA:324737
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Difficulty walking, Truncal ataxia ORPHA:309854
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Gliosis, Cerebral atrophy OMIM:619847
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Ataxia, Cerebellar gliosis, Unsteady gait, Gait disturbance, Temperature inst... ORPHA:35069
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Dysdiadochokinesis, Ataxia, Dysmetria OMIM:618356
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Hydrocephalus OMIM:618302
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... ORPHA:765
Spinocerebellar Ataxia, Autosomal Recessive 20
Cerebellar atrophy, Ataxia, Inability to walk, Cerebellar hypoplasia, Cerebral cortical atrophy OMIM:616354
Spastic Paraplegia 20, Autosomal Recessive
Cerebellar atrophy, Abnormal cerebellum morphology, Dysmetria, Difficulty walking, Spastic gait, ... OMIM:275900
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, Ventriculomegaly, Simplified gyral pattern, Cerebellar vermis atrophy OMIM:615760
Mitochondrial Dna Depletion Syndrome 17
Cerebellar atrophy, Chorea, Cerebral atrophy OMIM:618567
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168605
Cog8-Cdg
Cerebellar atrophy, Ataxia, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem ORPHA:95428
Developmental And Epileptic Encephalopathy 5
Cerebellar atrophy, Cerebral cortical atrophy, Cerebral atrophy, Atrophy/Degeneration affecting t... OMIM:613477
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Hypothermia, Cerebral atrophy OMIM:614654
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cho... OMIM:617988
Prune1-Related Neurological Syndrome
Cerebellar atrophy, Inability to walk, Cerebral atrophy ORPHA:544469
Superficial Siderosis
Cerebellar atrophy, Enlarged sylvian cistern, Ataxia, Impaired temperature sensation, Impaired pa... ORPHA:247245
Peho Syndrome
Cerebellar atrophy, Pachygyria, Neuronal loss in central nervous system, Polymicrogyria OMIM:260565
Developmental And Epileptic Encephalopathy 93
Cerebellar atrophy, Inability to walk, Gait disturbance, Cerebral atrophy OMIM:618012
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity OMIM:616640
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Cerebral atrophy OMIM:300475
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Bilateral... ORPHA:90797
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Atrophy of the spinal cord, Gait ataxia ORPHA:139480
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Fusion of the left... OMIM:619306
Mepan Syndrome
Cerebellar atrophy, Ataxia, Chorea, Cerebral atrophy, Gait disturbance ORPHA:508093
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Dystonia OMIM:304700
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Chore... ORPHA:391428
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Periventricular nodular heterotopia, Ataxia, Gait disturbance ORPHA:352582
Idiopathic Copper-Associated Cirrhosis
Increased circulating copper concentration, Decreased circulating ceruloplasmin concentration ORPHA:209919
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cerebellar vermis atrophy, Simplified gyral pattern, Gait ataxia, Polymicrogyria, Ventriculomegaly OMIM:300354
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malfo... OMIM:616602
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Cerebellar cortical atrophy OMIM:248800
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho... OMIM:617675
Spinocerebellar Ataxia 47
Chorea, Ataxia, Cerebellar vermis atrophy, Dysmetria OMIM:617931
Hengel-Maroofian-Schols Syndrome
Cerebellar atrophy, Inability to walk, Gait imbalance, Cerebral atrophy OMIM:619641
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cerebellar atrophy, Patent ductus arteriosus, Cerebral atrophy, Periventricular nodular heterotop... OMIM:618659
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Cerebral cortical atrophy ORPHA:2570
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Sensory ataxia, Atrophy/Degeneration affecting... OMIM:616192
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Ventriculomegaly OMIM:616299
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebellar atrophy, Ataxia, Inability to walk, Dysmetria, Pachygyria, Cerebral cortical atrophy OMIM:619576
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment OMIM:612674
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Cerebellar atrophy, Ataxia, Ventriculomegaly OMIM:618547
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Decreased response to growth hormone stimulation test, Cerebellar vermis atrophy OMIM:618347
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Cerebellar atrophy, Inability to walk, Brain atrophy OMIM:614739
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Olivopontocerebellar atrophy OMIM:146500
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Bradykinesia, ... ORPHA:98768
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebral atrophy, Diffuse cerebellar atrophy ORPHA:477774
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, C... OMIM:615356
Spinocerebellar Ataxia 36
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:614153
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration, Ventriculomegaly OMIM:620210
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Cerebellar atrophy OMIM:618506
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Ataxia, Gliosis, Truncal ataxia, Cerebral cortical atrophy, Ventriculomegaly OMIM:301072
Autosomal Recessive Spastic Paraplegia Type 78
Cerebellar atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Difficulty walking, C... ORPHA:513436
Amish Nemaline Myopathy
Tremor ORPHA:98902
Meningioma
Enlarged pituitary gland, Ataxia, Neoplasm of the anterior pituitary, Reduced circulating prolact... ORPHA:2495
Dpm1-Cdg
Cerebellar atrophy, Ataxia, Cerebral atrophy, Pontocerebellar atrophy, Abnormal dentate nucleus m... ORPHA:79322
Huppke-Brendel Syndrome
Cerebellar atrophy, Inability to walk, Cerebral atrophy OMIM:614482
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Cerebral atro... ORPHA:572798
Hereditary Late-Onset Parkinson Disease
Akinesia, Bradykinesia, Gliosis, Shuffling gait, Cerebral cortical atrophy ORPHA:411602
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity ORPHA:444013
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor OMIM:619790
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gray matter heterotopia, Hepatic periportal necrosis, Gliosis ORPHA:26791
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Lethargy, Ataxia, Cerebral cortical atrophy ORPHA:254913
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Ventriculomegaly, Choreoathetosis, Nonprogressive cerebellar ataxia ORPHA:431361
Episodic Ataxia Type 1
Cerebellar atrophy, Tip-toe gait, Choreoathetosis ORPHA:37612
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebellar atrophy, Simplified gyral pattern, Cerebral atrophy OMIM:619286
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intent... OMIM:254900
Alzheimer Disease 3
Neurofibrillary tangles, Gait disturbance, Cerebral cortical atrophy, Optic ataxia OMIM:607822
Shukla-Vernon Syndrome
Cerebellar atrophy, Broad-based gait OMIM:301029
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Dysmetria, Gait disturbance, Atrophy/De... ORPHA:88644
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration ORPHA:171851
Acute Bilirubin Encephalopathy
Fever, Abnormal thalamic MRI signal intensity ORPHA:529799
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Ataxia, Dysesthesia, Unsteady gait, Limb ataxia, Gait ataxia, Gait disturbanc... OMIM:619259
Chronic Bilirubin Encephalopathy
Fever, Abnormal thalamic MRI signal intensity ORPHA:529808
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles, Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Alzheimer Disease 9, Susceptibility To
Neurofibrillary tangles, Hippocampal atrophy, Cerebral cortical atrophy, Senile plaques OMIM:608907
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Cerebral cortical atrophy, Global brain ... OMIM:617802
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s... OMIM:105210
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Truncal ataxia, Diffuse cere... ORPHA:247815
Autosomal Dominant Optic Atrophy, Classic Form
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Gait disturbance, Atrophy/Degeneration affec... ORPHA:98673
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Ataxia, Inability to walk, Perisylvian polymicrogyria, Unsteady gait, Cerebra... OMIM:618443
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Corpus callosum atrophy, Gliosis, Polymicrogyria, Ventriculomegaly OMIM:261515
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Cerebral atrophy, Lethargy, Temperature instability, Ventriculomegaly OMIM:620306
Kleefstra Syndrome Due To A Point Mutation
Gliosis, Cerebellar hypoplasia, Ventriculomegaly ORPHA:261652
Developmental And Epileptic Encephalopathy 4
Tremor, Spastic paraplegia, Choreoathetosis, Spastic tetraplegia OMIM:612164
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Simplified gyral pattern, Cerebral atrophy OMIM:619609
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Cerebral atrophy, Ataxia, Brain atrophy OMIM:619260
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Episodic Ataxia, Type 2
Episodic ataxia, Progressive cerebellar ataxia, Paresthesia, Cerebellar vermis atrophy OMIM:108500
Cog5-Cdg
Cerebellar atrophy, Diffuse cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Later... ORPHA:263487
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Gait ataxia, Loss of ambulation OMIM:620089
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Gliosis, Cerebellar hypoplasia ORPHA:3240
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Abnormal cortical gyration, Hydrocephalus, Patent ductus arteriosus, Cerebral... OMIM:614576
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Cerebellar atrophy, Cerebral atrophy OMIM:620269
Slc35A2-Cdg
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Lateral ventricle dilatation, Atrophy/De... ORPHA:356961
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cerebellar atrophy, Patent ductus arteriosus, Unsteady gait, Partial absence of cerebellar vermis... ORPHA:329224
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance ORPHA:83629
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Pontocerebellar Hypoplasia, Type 1D
Cerebellar atrophy, Cerebral cortical atrophy, Cerebral atrophy OMIM:618065
Scholte Syndrome
Cerebellar atrophy OMIM:300977
Pontocerebellar Hypoplasia, Type 1B
Cerebellar atrophy, Cerebral atrophy, Cerebellar cyst OMIM:614678
Galloway-Mowat Syndrome 9
Cerebellar atrophy, Cerebral cortical atrophy, Ventriculomegaly, Choreoathetosis OMIM:619603
Kaya-Barakat-Masson Syndrome
Cerebellar atrophy, Cerebral atrophy OMIM:619125
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... ORPHA:99429
Warburg Micro Syndrome 4
Cerebellar atrophy, Inability to walk, Perisylvian polymicrogyria, Cerebral cortical atrophy OMIM:615663
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormality of the diencephalon, Ataxia ORPHA:2720
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Atrophy of the spinal cord, Progressive gait ataxia, Falls, Loss of ambulatio... ORPHA:329308
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Ataxia, Inability to walk, Dysmetria, Cerebellar hypoplasia, Cerebellar vermis atrophy OMIM:618087
Developmental And Epileptic Encephalopathy 48
Cerebellar atrophy, Cerebral atrophy OMIM:617276
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Spastic gait, Gait ataxia ORPHA:496790
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Somatic sensory dysfunction, Ataxia,... ORPHA:909
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Abnormality of temperature ... OMIM:618161
Adrenoleukodystrophy
Impaired vibration sensation at ankles, Neurodegeneration, Limb ataxia, Truncal ataxia OMIM:300100
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Abnormality of temperature regulation ORPHA:98757
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Atrophy of the spinal cord, Inability to walk, Lateral ventricle dilatation, Gait disturb... ORPHA:2822
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Inability to walk, Cerebral atrophy, Gait di... ORPHA:168491
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Loss of ambulation, Right hemiplegia OMIM:607426
Combined Oxidative Phosphorylation Deficiency 39
Cerebellar atrophy, Simplified gyral pattern, Cerebral atrophy, Pachygyria, Ventriculomegaly OMIM:618397
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Cerebral atrophy OMIM:619060
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Chorea, Cerebral atrophy, Cerebellar hypoplasia, Cerebral cortical atrophy, G... OMIM:616672
Leukodystrophy, Hypomyelinating, 12
Cerebellar atrophy, Temperature instability, Ventriculomegaly OMIM:616683
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis... ORPHA:502423
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myoclo... OMIM:616271
Developmental And Epileptic Encephalopathy 51
Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebral cortical atrophy OMIM:617339
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Dysmetria OMIM:619780
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Tetraparesis OMIM:617186
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... ORPHA:8
Multiple Sulfatase Deficiency
Cerebellar atrophy, Ataxia, Hydrocephalus, Cerebral atrophy, Ventriculomegaly OMIM:272200
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Axonal degeneration, Neurodegeneration, Diffuse cerebellar atrophy, Retinopathy... ORPHA:478029
Bickerstaff Brainstem Encephalitis
Ataxia, Dysesthesia, Impaired proprioception, Abnormal thalamic MRI signal intensity, Sensory ataxia ORPHA:79138
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Ataxia, Loss of ability to walk in first decade, Truncal ataxia, Neuronal los... OMIM:300243
Filippi Syndrome
Cerebellar atrophy OMIM:272440
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cerebellar atrophy, Ataxia, Inability to walk, Chorea, Cerebral atrophy, Ventriculomegaly OMIM:617804
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618868
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebellar atrophy, Corpus callosum atrophy, Cerebral atrophy, Cerebral cortical atrophy, Ventric... OMIM:619272
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Ataxia, Inability to walk, Gait ataxia, Choreoathetosis, Ventriculomegaly OMIM:619580
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Athetosis, Gliosis, Ventriculome... ORPHA:404454
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... ORPHA:330015
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Gliosis, Ventriculomegaly, Cerebral atrophy OMIM:252160
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Unsteady gait, Neurodegeneration, Ataxia OMIM:615919
Congenital Disorder Of Glycosylation, Type Iiq
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:617395
Mitochondrial Complex I Deficiency, Nuclear Type 2
Ventriculomegaly, Falls, Gliosis, Difficulty walking OMIM:618222
Spastic Paraplegia 51, Autosomal Recessive
Cerebellar atrophy, Inability to walk, Cerebral cortical atrophy, Ventriculomegaly OMIM:613744
Alpha-Mannosidosis, Adult Form
Cerebellar atrophy, Subcortical cerebral atrophy, Ataxia, Cerebral cortical atrophy ORPHA:309288
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Ataxia, Decreased thalamic volume ORPHA:168577
Adenylosuccinase Deficiency
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Gait ataxia OMIM:103050
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration ORPHA:435934
Cimdag Syndrome
Cerebellar vermis hypoplasia, Ataxia, Chorea, Cerebral atrophy, Pontocerebellar atrophy, Cerebell... OMIM:619273
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles, Senile plaques DECIPHER:48
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Pachygyria, Gliosis OMIM:231680
Intellectual Developmental Disorder, Autosomal Dominant 62
Cerebellar vermis atrophy OMIM:618793
Bilateral Polymicrogyria
Cerebellar atrophy, 4-layered lissencephaly, Perisylvian polymicrogyria, Cerebellar ataxia associ... ORPHA:268940
Alg1-Cdg
Cerebellar atrophy, Cerebral atrophy ORPHA:79327
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal po... OMIM:619103
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles, Senile plaques OMIM:605055
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Spastic ataxia ORPHA:496756
Leukodystrophy, Hypomyelinating, 20
Cerebellar atrophy OMIM:619071
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Chorea, Neurodegeneration, Cerebral atrophy ORPHA:309246
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy ORPHA:3085
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebellar atrophy, Ataxia, Patent ductus arteriosus, Cerebral atrophy, Cerebellar hypoplasia OMIM:615398
Pyruvate Dehydrogenase E2 Deficiency
Broad-based gait, Gait disturbance, Neurodegeneration, Difficulty walking, Retinal degeneration ORPHA:79244
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Macrogyria, Athetosis, Colpocephaly, Cerebellar hypoplasia, Lethargy, Pachygy... OMIM:614866
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Digital Extensor Muscle Aplasia-Polyneuropathy
Heat intolerance, Abnormality of temperature regulation, Impaired pain sensation ORPHA:2926
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Patent ductus arteriosus, Abnormal pons morphology, Lateral ventricle dilatation, Gliosis, Cerebe... OMIM:300868
Irida Syndrome
Decreased circulating copper concentration ORPHA:209981
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Molybdenum Cofactor Deficiency, Complementation Group A
Ventriculomegaly, Gliosis, Cerebral atrophy OMIM:252150
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Cerebellar vermis atrophy, Abnormality of neuronal migration, Abnormal neuron morphology ORPHA:163681
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Holoprosencephaly 14
Cerebellar atrophy, Ventriculomegaly, Periventricular heterotopia, Aqueductal stenosis, Hydroceph... OMIM:619895
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Limb ataxia, Cerebellar vermis atrophy, Truncal ataxia OMIM:617101
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Ataxia, Cerebral atrophy, Choreoathetosis, Ventriculomegaly OMIM:615471
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Global brain atrophy OMIM:608776
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration ORPHA:803
Developmental And Epileptic Encephalopathy 95
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, Cerebral atrophy, Gait dis... OMIM:618143
East Syndrome
Cerebellar atrophy, Inability to walk, Ataxia, Difficulty walking ORPHA:199343
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Ataxia, Tremor, Gait disturbance, Oculomotor apraxia ORPHA:220497
Early-Onset Autosomal Dominant Alzheimer Disease
Neurofibrillary tangles, Ataxia, Cerebral cortical atrophy ORPHA:1020
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
Familial Or Sporadic Hemiplegic Migraine
Cerebellar atrophy, Impaired temperature sensation, Dissociated sensory loss, Progressive gait at... ORPHA:569
Niemann-Pick Disease, Type C1
Neurofibrillary tangles, Neuronal loss in central nervous system, Ataxia, Gait ataxia OMIM:257220
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Cerebral atrophy, Corpus callosum atrophy, Brain atrophy OMIM:616875
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Dysmetria, Cerebellar hypoplasia, Polymicrogyria OMIM:619708
Short Stature-Micrognathia Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia OMIM:617164
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Unsteady gait, Gait disturbance, Cerebral atrophy ORPHA:412217
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Fever, Thalamic hemorrhage ORPHA:464321
Holoprosencephaly 7
Hydrocephalus, Partial agenesis of the corpus callosum, Panhypopituitarism, Fusion of the left an... OMIM:610828
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Ataxia, Gait ataxia ORPHA:543470
Joubert Syndrome
Cerebellar vermis hypoplasia, Ataxia, Tremor, Gait disturbance, Oculomotor apraxia ORPHA:475
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ventriculomegaly, Ataxia, Simplified gyral pattern, Dysmetria, Dysdiadochokines... OMIM:616541
Takenouchi-Kosaki Syndrome
Cerebellar atrophy, Ataxia, Patent ductus arteriosus, Cerebellar hypoplasia, Cerebral cortical at... OMIM:616737
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Olivopontocerebellar hyp... ORPHA:468631
Mitochondrial Dna Depletion Syndrome 11
Cerebellar atrophy OMIM:615084
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Cerebellar atrophy, Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability ... ORPHA:466768
Familial Benign Copper Deficiency
Decreased circulating copper concentration ORPHA:1551
Congenital Disorder Of Glycosylation, Type Id
Cerebellar atrophy, Cerebral atrophy OMIM:601110
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Limb dystonia ORPHA:25
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Ataxia, Decreased response to growth hormone stimulation test, Posterior pituit... ORPHA:268261
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Cerebellar atrophy, Cerebellar hypoplasia, Cerebral cortical atrophy OMIM:617763
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Corpus callosum atrophy, Dysmetria, Pontocerebellar atrophy, Dysdiadochokines... ORPHA:171629
Peho Syndrome
Cerebellar atrophy, Hydrocephalus, Atrophy/Degeneration affecting the brainstem, Cerebral cortica... ORPHA:2836
Congenital Disorder Of Deglycosylation 1
Fever, Pain insensitivity, Chorea, Dysmetria, Athetosis, Gliosis OMIM:615273
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Dysesthesia, Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Diffuse cerebellar a... ORPHA:93256
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Ventriculomegaly, Cerebral atrophy OMIM:615851
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Cerebellar vermis hypoplasia, Cerebral atrophy, Lateral ventricle dilatation,... OMIM:611209
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Central ner... ORPHA:447788
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... OMIM:614963
Charcot-Marie-Tooth Disease Type 4C
Cerebellar atrophy, Impaired pain sensation, Inability to walk, Impaired distal vibration sensati... ORPHA:99949
Copper Deficiency, Familial Benign
Decreased circulating copper concentration OMIM:121270
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Ataxia, Ventriculomegaly OMIM:610651
Galloway-Mowat Syndrome 1
Cerebellar atrophy, Ventriculomegaly, Ataxia, Cerebral atrophy, Pachygyria, Dandy-Walker malforma... OMIM:251300
Galloway-Mowat Syndrome 3
Cerebellar atrophy, Simplified gyral pattern, Cerebral atrophy, Lissencephaly, Pachygyria, Ventri... OMIM:617729
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Ventriculomegaly ORPHA:466934
Stt3B-Cdg
Cerebellar atrophy ORPHA:370924
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy ORPHA:352447
Cockayne Syndrome
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Inability to walk, Cerebral atrophy, Pro... ORPHA:191
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Agenesis of corpus callosum, Periventricular heterotopia OMIM:618929
Congenital Disorder Of Glycosylation, Type Ix
Cerebellar atrophy OMIM:615597
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cerebellar atrophy ORPHA:544503
Mevalonic Aciduria
Cerebellar atrophy, Agenesis of cerebellar vermis, Ataxia, Cerebral atrophy, Progressive cerebell... OMIM:610377
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Cerebral atrophy, Gait ataxia, Gait disturbance, Neurodegeneration OMIM:616878
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Olivopontocer... OMIM:212065
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration ORPHA:521411
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Choreoathetosis, Cerebral atrophy ORPHA:445038
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Fever, Abnormal medulla oblongata morphology, Ataxia, Abnormal cerebellum mo... ORPHA:68
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Ataxia, Cerebral atrophy, Difficulty walking, Abnormal dentate nucleus morpho... OMIM:213700
Combined Oxidative Phosphorylation Deficiency 25
Cerebellar atrophy, Ventriculomegaly, Hypoplasia of the pons, Cerebral atrophy OMIM:616430
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Cerebral atrophy OMIM:268020
Fatal Familial Insomnia
Fever, Neuronal loss in central nervous system, Ataxia OMIM:600072
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Ataxia, Gliosis, Cerebral atrophy OMIM:124000
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity ORPHA:2828
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Corpus callosum atrophy, Diffuse cerebellar atrophy, Dystonic gait, Cerebral atrophy ORPHA:480898
Gm2-Gangliosidosis, Ab Variant
Chorea, Neurodegeneration, Cerebral atrophy OMIM:272750
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebral atrophy, Cerebellar hyp... OMIM:618590
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Gait disturbance, Gait imbalance, Cereb... OMIM:300966
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... OMIM:242150
Spinocerebellar Ataxia Type 7
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Cerebral atrophy, Dysmetria, Dysdiadocho... ORPHA:94147
Niemann-Pick Disease Type C
Ataxia, Narcolepsy, Chorea, Cerebral atrophy, Progressive gait ataxia, Gait disturbance, Frontal ... ORPHA:646
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy OMIM:618186
Cadds
Cerebellar atrophy, Ventriculomegaly ORPHA:369942
Alzheimer Disease 4
Neurofibrillary tangles, Cerebral amyloid angiopathy, Senile plaques OMIM:606889
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... OMIM:208900
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Cerebellar atrophy, Cerebral atrophy OMIM:616266
Stt3A-Cdg
Cerebellar atrophy ORPHA:370921
Papillorenal Syndrome
Chiari type I malformation, Gliosis OMIM:120330
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Axonal degeneration, Global brain atrophy OMIM:616811
Biotinidase Deficiency
Lethargy, Diffuse cerebral atrophy, Diffuse cerebellar atrophy, Ataxia OMIM:253260
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Ataxia, Partial agenesis of the corpus callosum, Simplified gyral p... OMIM:220111
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Cerebellar atrophy, Decreased response to growth hormone stimulation test, Cerebral atrophy, Hipp... OMIM:618922
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cerebellar atrophy, Inability to walk, Truncal ataxia, Global brain atrophy, Ventriculomegaly OMIM:620066
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Malignant hyperthermia OMIM:193700
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... ORPHA:512
Gabriele-De Vries Syndrome
Waddling gait, Decreased response to growth hormone stimulation test, Gliosis, Agenesis of corpus... ORPHA:506358
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Lateral ventricle dilatation,... OMIM:615873
Bilateral Perisylvian Polymicrogyria
Cerebellar dysplasia, Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor ... ORPHA:98889
Chédiak-Higashi Syndrome
Cerebellar atrophy, Fever, Somatic sensory dysfunction, Ataxia, Atrophy of the spinal cord, Inabi... ORPHA:167
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Ataxia, Cerebral cortical atrophy ORPHA:496641
Narcolepsy 3
Narcolepsy OMIM:609039
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Narcolepsy 1
Narcolepsy OMIM:161400
African Trypanosomiasis
Somatic sensory dysfunction, Akinesia, Narcolepsy, Impaired proprioception, Periodic fever, Chore... ORPHA:3385
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Hypothermia, Inability to walk, Unsteady gait OMIM:618493
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Patent ductus arteriosus, Choreoathetosis, Cerebral atrophy OMIM:614080
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Decreased response to growth hormone stimulation test, Hypothermia, Impaired pain sensatio... ORPHA:293987
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Cerebellar hypoplasia, Hypothermia OMIM:618329
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy OMIM:618541
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Communicating hydrocephalus, Gait ataxia, Cerebral cortical atrophy, Ventricu... OMIM:617011
Narcolepsy 7
Narcolepsy OMIM:614250
Slc39A8-Cdg
Cerebellar atrophy, Inability to walk, Cerebral cortical atrophy, Ventriculomegaly ORPHA:468699
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Ataxia, Gait ataxia, Bradykinesia, Gait disturbance, Lethargy ORPHA:254892
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Cerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Cerebral atrophy OMIM:618891
Chediak-Higashi Syndrome
Gait disturbance, Neurodegeneration, Ataxia OMIM:214500
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Pfapa Syndrome
Abnormality of temperature regulation ORPHA:42642
Hypotonia, Ataxia, And Delayed Development Syndrome
Cerebellar atrophy, Broad-based gait, Pain insensitivity, Ataxia, Cerebellar vermis hypoplasia, D... OMIM:617330
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Dysdiadochokinesis, Ataxia OMIM:612780
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Neurodegeneration OMIM:309900
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles, Ataxia, Cerebral amyloid angiopathy OMIM:117300
Craniopharyngioma
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hydrocephalus, Pituitary hypothyroi... ORPHA:54595
Plaa-Associated Neurodevelopmental Disorder
Abnormal cortical gyration, Ventriculomegaly, Cerebellar cortical atrophy ORPHA:521426
Alpha-Mannosidosis, Infantile Form
Cerebellar atrophy, Communicating hydrocephalus, Ataxia, Subcortical cerebral atrophy, Chiari mal... ORPHA:309282
Knobloch Syndrome 1
Cerebellar atrophy, Ataxia, Patent ductus arteriosus, Cerebral atrophy, Polymicrogyria, Ventricul... OMIM:267750
Trichothiodystrophy
Partial agenesis of the corpus callosum, Gait ataxia, Diffuse cerebellar atrophy, Cerebral cortic... ORPHA:33364
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Cerebellar atrophy, Patent ductus arteriosus, Partial absence of cerebellar vermis, Athetosis, Ve... ORPHA:280633
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Cerebellar atrophy OMIM:619685
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of corpus callosum ORPHA:314621
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Choreoathetosis, Episodic ataxia, Pachygyria ORPHA:1934
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Inability to walk, Ataxia OMIM:617799
White-Sutton Syndrome
Cerebellar atrophy, Subcortical cerebral atrophy, Cerebral cortical atrophy, Hypoplasia of the pons ORPHA:468678
Hurler Syndrome
Hydrocephalus, Neurodegeneration OMIM:607014
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Neurodegeneration OMIM:253220
3-Methylglutaconic Aciduria, Type Viia
Cerebellar atrophy OMIM:619835
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Lateral ventricle dilatation, Fever OMIM:618367
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Cerebral atrophy, Ataxia, Global brain atrophy OMIM:618426
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Ataxia, Dysmetria OMIM:616263
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia OMIM:601374
Cockayne Syndrome A
Cerebellar atrophy, Ataxia, Cerebral atrophy, Normal pressure hydrocephalus, Gait disturbance, Ve... OMIM:216400
Congenital Disorder Of Glycosylation, Type Iie
Cerebellar atrophy, Cerebral atrophy OMIM:608779
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Mucopolysaccharidosis, Type Iiid
Cerebellar atrophy, Difficulty walking OMIM:252940
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy OMIM:610131
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Cerebral atrophy OMIM:619124
Cockayne Syndrome Type 1
Difficulty walking, Abnormality of temperature regulation, Ataxia, Gait disturbance ORPHA:90321
Acute Transverse Myelitis
Impaired vibratory sensation, Fever, Somatic sensory dysfunction, Abnormality of temperature regu... ORPHA:139417
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Unsteady gait, Positive Romberg sign, Pa... ORPHA:67036
Argininemia
Cerebellar atrophy, Spastic gait OMIM:207800
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Periventricular heterotopia, Patent ductus arterios... OMIM:270400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Fever, Broad-based gait, Ataxia, Hydrocephalus, Tip-toe gait, Falls, Neurodegeneration, Recurrent... OMIM:619475
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Lethargy, Ataxia OMIM:252010
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper ORPHA:457351
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Patent ductus arteriosus, Global brain atrophy ORPHA:369837
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Cerebellar atrophy, Patent ductus arteriosus, Dandy-Walker malformation, Ventriculomegaly, Cerebe... ORPHA:487796
Dyskeratosis Congenita, Autosomal Recessive 8
Cerebellar atrophy OMIM:620133
Beta-Thalassemia
Abnormality of temperature regulation ORPHA:848
Niemann-Pick Disease, Type C2
Neurofibrillary tangles, Ataxia OMIM:607625
Cutis Laxa, Autosomal Recessive, Type Iid
Gliosis OMIM:617403
Diets-Jongmans Syndrome
Gliosis OMIM:618846
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
9Q33.3Q34.11 Microdeletion Syndrome
Inability to walk, Patent ductus arteriosus, Cerebellar vermis atrophy ORPHA:495818
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation OMIM:619173
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop... OMIM:277900
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Williams Syndrome
Ataxia, Atrophy/Degeneration involving the corticospinal tracts, Patent ductus arteriosus, Dysmet... ORPHA:904
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia ORPHA:228123
Skin Creases, Congenital Symmetric Circumferential, 1
Dandy-Walker malformation, Cerebellar vermis atrophy OMIM:156610
Stuve-Wiedemann Syndrome 1
Fever, Abnormality of temperature regulation, Recurrent fever, Impaired pain sensation OMIM:601559
Nijmegen Breakage Syndrome
Neurodegeneration, Glioma OMIM:251260
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Fever, Cerebral atrophy OMIM:615846
Alg9-Cdg
Cerebellar atrophy, Cerebral atrophy ORPHA:79328
Lathosterolosis
Chiari malformation, Cerebellar cortical atrophy ORPHA:46059
Deeah Syndrome
Abnormality of temperature regulation, Decreased response to growth hormone stimulation test, Ant... OMIM:619004
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Cerebral atrophy OMIM:301030
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of temperature regulation, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cereb... ORPHA:2273
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Cerebellar atrophy OMIM:210730
Chronic Mucocutaneous Candidiasis
Abnormality of temperature regulation ORPHA:1334
Monosomy 22Q13.3
Impaired pain sensation, Agenesis of corpus callosum, Cerebellar cortical atrophy ORPHA:48652
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:304150
Norrie Disease
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Cerebral cortical atrophy ORPHA:649
Heterotaxy, Visceral, 5, Autosomal
Cerebellar atrophy, Patent ductus arteriosus, Cerebellar hypoplasia, Cerebral atrophy OMIM:270100
Ulnar-Mammary Syndrome
Abnormality of temperature regulation ORPHA:3138
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Cerebellar cortical atrophy OMIM:619321
Primrose Syndrome
Ventriculomegaly, Neurodegeneration, Ataxia OMIM:259050
Cystic Fibrosis
Male infertility OMIM:219700
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
Cerebellar atrophy, Hydrocephalus 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

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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