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Gene: Sptbn4 MGI:1890574

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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:
spectrin beta, non-erythrocytic 4
Synonyms:
Spnb4,  1700022P15Rik,  5830426A08Rik,  SpbIV,  nmf261,  neuroaxonal dystrophy,  ROSA62,  dyn

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 Sptbn4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Sptbn4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Sensorineural he... OMIM:617519

The table below shows human diseases predicted to be associated to Sptbn4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Deafness, Autosomal Dominant 65
Abnormal vestibular function, Progressive hearing impairment OMIM:616044
Spastic Paraplegia With Associated Extrapyramidal Signs
Spastic paraplegia, Abnormality of extrapyramidal motor function OMIM:182800
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Spastic Paraplegia 34, X-Linked
Clonus, Babinski sign, Spastic paraplegia, Paraplegia, Spastic gait OMIM:300750
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
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
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... OMIM:616053
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... ORPHA:401840
Ataxia-Deafness-Retardation Syndrome
Progressive sensorineural hearing impairment, Ataxia OMIM:208850
Spastic Paresis, Glaucoma, And Mental Retardation
Spastic paraplegia OMIM:270850
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad... ORPHA:363710
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Episodic Ataxia, Type 1
Incoordination, Tremor, Vertigo, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Dystonia 31
Generalized dystonia, Parkinsonism, Writer's cramp, Leg dystonia, Arm dystonia, Difficulty walkin... OMIM:619565
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment, Ataxia OMIM:212850
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... ORPHA:423275
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Episodic Ataxia Type 5
Vertigo, Ataxia, Truncal ataxia ORPHA:211067
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Limb ataxia... OMIM:616291
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impairment ORPHA:217012
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... OMIM:607458
Spastic Paraplegia 24, Autosomal Recessive
Spasticity, Spastic paraplegia, Clonus OMIM:607584
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome
Spasticity, Paraplegia ORPHA:2818
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, ... OMIM:605259
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Autosomal Recessive Spastic Paraplegia Type 24
Clonus, Sensorineural hearing impairment, Spastic paraplegia, Scissor gait, Tip-toe gait, Spasticity ORPHA:101004
Spinocerebellar Ataxia Type 23
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... ORPHA:101108
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Deafness-Infertility Syndrome
Male infertility, Azoospermia, Sensorineural hearing impairment ORPHA:94064
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... OMIM:616515
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... ORPHA:98765
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Impaired pain sensation, Sensorineural hearing impairment, Impaired distal vibration sensation, H... OMIM:300905
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular d... OMIM:164500
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Abnormal nerv... OMIM:256731
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Babinski sign, ... ORPHA:101007
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Babinski sign, S... OMIM:610357
Cataract-Ataxia-Deafness-Retardation Syndrome
Adult onset sensorineural hearing impairment, Ataxia, Distal sensory impairment OMIM:212710
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata... OMIM:616204
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Spastic Paraplegia 2, X-Linked
Lower limb spasticity, Abnormal cerebellum morphology, Babinski sign, Optic atrophy, Spastic para... OMIM:312920
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy OMIM:612437
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... OMIM:601068
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
X-Linked Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive... ORPHA:1175
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor OMIM:608029
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment OMIM:618013
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Ataxia, Inability to walk, Optic atrophy, Dysmetria, Dystonia, Spasticity, Fa... OMIM:617954
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:136600
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Recessive 120
Sensorineural hearing impairment OMIM:620238
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG abnorma... OMIM:617810
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... OMIM:616127
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Cerebe... ORPHA:314603
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... OMIM:613728
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign, Sensory axonal ne... OMIM:617770
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia OMIM:611031
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Optic atrophy, Unsteady gait, Dysmetria, Hypop... OMIM:210000
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Spastic para... OMIM:614877
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Sensorineur... OMIM:610185
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity... OMIM:618404
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal ... OMIM:618387
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Cerebellar Ataxia, Cayman Type
Broad-based gait, Abnormal retinal morphology, Gait ataxia, Cerebellar hypoplasia, Nonprogressive... ORPHA:94122
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... OMIM:619806
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ata... OMIM:610743
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia, Hypogonadotropic hypogonadism ORPHA:1180
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, ... ORPHA:453521
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Hoffmann sign, Babinski sign, Spastic paraplegia, Impaired vibration sensation in the low... OMIM:615625
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Cerebellar atrophy, Peripheral axonal degeneration, In... OMIM:302800
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:617145
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ... OMIM:117360
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking ORPHA:85292
Developmental Delay With Dysmorphic Facies And Dental Anomalies
EEG abnormality, Spasticity, Ataxia OMIM:619228
Spinocerebellar Ataxia 37
Tremor, Unsteady gait, Frequent falls, Ataxia OMIM:615945
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus, Hearing impairment OMIM:159800
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment OMIM:617018
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,... OMIM:618090
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Lower limb spasticity, Cerebellar ve... ORPHA:98
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Hypogonadism, Hearing impairment OMIM:312910
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen... OMIM:615127
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Spastic Ataxia 7, Autosomal Dominant
Spastic ataxia, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:108650
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Broad-based gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar hypo... OMIM:224050
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Bilateral sensorineural hearing impairmen... ORPHA:2589
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Optic atrophy, EEG abnormality, Hypertonia, Chorioretinal coloboma, Olivopontocerebellar ... ORPHA:2732
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis OMIM:608634
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Vestibular areflexia, Babinski sign, Optic atrophy, Dysmetria, ... ORPHA:504476
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent fall... OMIM:617691
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment... OMIM:612674
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Leukodystrophy, Hypomyelinating, 16
Optic disc pallor, Broad-based gait, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Choreoathet... OMIM:617964
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Babinski sign, Abnormal pyramida... ORPHA:363429
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty... OMIM:613608
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors OMIM:159900
Spastic Paraplegia 43, Autosomal Recessive
Babinski sign, Spastic paraplegia, Optic atrophy, Distal sensory impairment, Gait disturbance, Lo... OMIM:615043
Spastic Paraparesis-Deafness Syndrome
Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Sensorineural hearing impairment, Gait d... ORPHA:2815
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Retinal dystrophy, Ataxia, EEG with generalized polyspikes, Optic atrophy OMIM:614706
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Ataxia OMIM:208750
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Impaired vibratio... OMIM:159550
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor... OMIM:618876
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Cerebellar Ataxia, Cayman Type
Intention tremor, Broad-based gait, Truncal ataxia, Gait ataxia OMIM:601238
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... OMIM:617633
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Abnormal myelination, Hand tremor, Progressive spastic paraplegia ORPHA:401835
Spastic Paraplegia 75, Autosomal Recessive
Cerebellar atrophy, Babinski sign, Optic atrophy, Abnormal pyramidal sign, Dysmetria, Impaired di... OMIM:616680
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb spasticity, Postural tremor, Impaired distal proprioception, Abnormal cerebellum morph... OMIM:270800
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Focal dystonia, Gait ataxia, Progressive cerebellar ataxia, Impair... OMIM:605361
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Optic atr... OMIM:612319
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, Chorea, Opt... ORPHA:98755
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, De... OMIM:270550
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Dys... OMIM:618088
Spinocerebellar Ataxia 31
Sensorineural hearing impairment, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Spastic Paraplegia 48, Autosomal Recessive
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Tip... OMIM:613647
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm OMIM:608653
Spastic Paraplegia 76, Autosomal Recessive
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Gait ataxia, Distal ... OMIM:616907
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy OMIM:618501
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,... OMIM:615491
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Dysmetria, Titubat... ORPHA:98771
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... OMIM:619028
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:352403
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... ORPHA:208513
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment, Hearing impairment OMIM:614369
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity, He... ORPHA:101075
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation OMIM:617916
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten... ORPHA:308
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Ataxia, Head titubation, Babinski sign, Optic atrophy, Dysmetria, Intention tremor OMIM:618688
Spastic Paraplegia 7, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Spastic ataxia, Waddling gait, Babinski sign, Optic at... OMIM:607259
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function, Hearing i... OMIM:165300
Deafness-Infertility Syndrome
Male infertility, Abnormal vestibular function, Abnormal sperm tail morphology, Abnormal spermato... OMIM:611102
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Axonal degeneration, Steppage gait, Tip-toe gait, Fasciculations,... OMIM:614436
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gai... OMIM:614322
Spinocerebellar Ataxia 5
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... OMIM:600224
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar ver... OMIM:615957
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
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ... OMIM:603516
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Babinski sign, Spastic p... OMIM:614409
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, EEG with generalized epileptiform discharges, Myoclonus OMIM:616187
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... ORPHA:401901
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria... OMIM:607136
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... OMIM:606777
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady... ORPHA:101010
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Retinal dystrophy, Tremor, Sensorineural hearing impairment, Unsteady... OMIM:614867
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Cerebellar hy... ORPHA:529665
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Tremor, Decreased nerve conduction velocity, Gait disturbance, H... ORPHA:101078
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s... ORPHA:93952
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Cataract-Ataxia-Deafness Syndrome
Ataxia, Tremor, Decreased nerve conduction velocity, Sensorineural hearing impairment, Hypertonia... ORPHA:1368
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria... ORPHA:313772
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Abnormal myelination, Spas... ORPHA:401820
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:254881
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea, Involuntary movements OMIM:616939
Spastic Ataxia 9, Autosomal Recessive
Ataxia, Hoffmann sign, Abnormal pyramidal sign, Babinski sign, Dysmetria, Impaired distal vibrati... OMIM:618438
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Interictal EEG abnormality, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria,... ORPHA:79263
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Optic atrophy, Gait disturbance, Aplasia/Hypoplas... ORPHA:2572
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Decreased body weight, Spasticity, Failure to thrive ORPHA:99852
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria OMIM:619191
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Ba... OMIM:609270
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady ... ORPHA:228360
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Peripheral axonal neuropathy, Incoordination, Ataxia, Dystonia, Sensorineural hearing impairment,... OMIM:601338
Spinocerebellar Ataxia 4
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... OMIM:600223
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Tetraplegia, Hand tr... OMIM:604484
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Peripheral axonal degeneration, Incoordination, Ataxia, Dysto... OMIM:615157
Spinocerebellar Ataxia Type 36
Ataxia, Hearing impairment, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Trunc... ORPHA:276198
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... ORPHA:101112
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
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Ataxia, Optic nerve hypoplasia, Dysmetria, Gait ataxia OMIM:614306
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Clonus, Decreased nerve conduction velocity, Poor coordination, Abn... OMIM:238970
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,... OMIM:611390
Spinocerebellar Ataxia 2
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo... OMIM:183090
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ... ORPHA:284289
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S... OMIM:614487
Gemignani Syndrome
Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Sensorineural hearing impairment, Abnorm... ORPHA:2074
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... ORPHA:251347
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... OMIM:602433
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Spinocereb... OMIM:164400
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Sensorineural hearing impairment, Impaired vibration sensati... ORPHA:352675
Autosomal Dominant Spastic Paraplegia Type 8
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Babinski sign, Impair... ORPHA:100989
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Head tremor, Self-biting OMIM:619988
Joubert Syndrome 24
Ataxia, Dysmetria, Gait disturbance, Cerebellar hypoplasia, Spasticity OMIM:616654
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Vertigo, Abnormal pyramidal... ORPHA:101110
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dys... OMIM:607694
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Dystonia 23
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Huntington Disease-Like 1
Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria OMIM:603218
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Dysdia... OMIM:618356
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
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
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,... ORPHA:1170
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski si... OMIM:616505
Brunner Syndrome
Self-injurious behavior, Kinetic tremor, Impulsivity, Aggressive behavior OMIM:300615
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Generalized dystonia, Ataxia, Perip... OMIM:619389
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... ORPHA:382
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Progressive spastic... ORPHA:401830
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Dysdiadochokinesis, Limb dysmetria, Dysmetria, Gait ataxia ORPHA:324262
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Postural tremor, Impaired distal proprioception, Babinski sign, Optic atrophy, Impaired v... ORPHA:447896
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Hereditary Geniospasm
Abnormal social behavior, Chin myoclonus, Intention tremor ORPHA:53372
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... ORPHA:459056
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... OMIM:277460
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadoch... ORPHA:289494
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... ORPHA:71277
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br... ORPHA:210571
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Spinocerebellar Ataxia 6
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... OMIM:183086
Striatonigral Degeneration, Infantile
Optic atrophy, Choreoathetosis, Dystonia, Spasticity, Failure to thrive OMIM:271930
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy, Spasticity, Abnormality of p... ORPHA:431329
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... OMIM:617270
Spinocerebellar Ataxia Type 10
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Babinski sign, Unsteady gait, Dysmetri... ORPHA:98761
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)
Broad-based gait, Hypoplasia of the pons, Babinski sign, Dysmetria, Ankle clonus, Hypertonia, Cer... OMIM:606854
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Somatic sensory dysfunction, Unsteady gait, Abnormal pyramidal sign, Impaired proprioception, Lim... ORPHA:95434
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... OMIM:604391
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Im... ORPHA:100999
Autosomal Spastic Paraplegia Type 72
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles ORPHA:401849
Mitochondrial Complex I Deficiency, Nuclear Type 31
Sensorineural hearing impairment, Failure to thrive, Myoclonus, Dysmetria OMIM:618251
Autosomal Recessive Spastic Paraplegia Type 43
Babinski sign, Poor fine motor coordination, Spastic paraparesis, Spasticity, Spastic gait ORPHA:320370
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Oxoglutarate Dehydrogenase Deficiency
Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia OMIM:203740
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Nescav Syndrome
Cerebellar atrophy, Appendicular spasticity, Peripheral axonal neuropathy, Ataxia, Inability to w... OMIM:614255
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Abn... OMIM:607317
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Lower limb spasticity, Peripheral axonal neuropathy, Abnormal cerebellum morphology, Babinski sig... ORPHA:320360
Friedreich Ataxia
Decreased motor nerve conduction velocity, Hearing impairment, Inability to walk, Chorea, Babinsk... ORPHA:95
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... OMIM:619279
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... ORPHA:99014
Porphyria, Acute Hepatic
Respiratory paralysis, Paresthesia, Paralysis OMIM:612740
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Tremor, Decreased number of... OMIM:208920
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, ... OMIM:620158
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas... ORPHA:216873
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Upper limb hypert... OMIM:613672
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, D... OMIM:609195
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Camos Syndrome
Ataxia, Optic atrophy, Spasticity, Aplasia/Hypoplasia of the cerebellum, Progressive extrapyramid... ORPHA:83472
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Abnormal cerebellum morphology, Inability to walk, O... ORPHA:280234
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl... ORPHA:306692
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 17
Male infertility OMIM:617214
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Chorea, Benign Familial
Chorea OMIM:215450
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonism, Action tremor, Im... OMIM:300623
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, ... OMIM:619150
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Alexander Disease
Ataxia, Babinski sign, Dysmetria, Spasticity, Abnormal dentate nucleus morphology, Palatal tremor OMIM:203450
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, EEG abnormality, Pigmentary retinopathy, Retinopathy OMIM:610951
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Babinski sign, Dysmetria, Axonal lo... OMIM:618170
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Optic atrophy,... OMIM:620221
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Horner Syndrome, Congenital
Paralysis OMIM:143000
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia, Hearing impairment ORPHA:1186
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxi... OMIM:614381
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Distal sensory impairment, O... OMIM:615217
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Distal sensory impairment, Paralysis OMIM:613710
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Abnormal optic nerve morphology, Cerebellar ... ORPHA:33445
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Spastic Paraplegia 44, Autosomal Recessive
Lower limb spasticity, Ataxia, Sensorineural hearing impairment, Babinski sign, Spastic paraplegi... OMIM:613206
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
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
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebellar atrophy, Broad-based gait, Ataxia, Clonus, Babinski sign, Abnormal pyramidal sign, Uns... OMIM:616479
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... OMIM:302500
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia OMIM:619651
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia ORPHA:101005
Stxbp1-Related Encephalopathy
Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Spastic tetraplegia, Mul... ORPHA:599373
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ... ORPHA:251282
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
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... OMIM:214400
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil... OMIM:616269
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ... ORPHA:98811
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia, Hearing impairment OMIM:620270
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebellar hypoplasia, Ataxia ORPHA:2246
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Cerebellar atrophy, Broad-based gait, Ataxia, Sensorineural hearing impairment, Dysmetria OMIM:618098
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Involuntary movements, Aggressive behavior OMIM:617171
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Torticollis, Hypergonado... OMIM:613724
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Recessive Mitochondrial Ataxia Syndrome
Impaired vibratory sensation, Ataxia, Dysmetria, Gait disturbance, Positive Romberg sign, Abnorma... ORPHA:94125
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasti... OMIM:615924
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Abnormal pyramidal sign, Dysmetria, Paresthesia, Motor axonal neuropathy, Abnormality of ... ORPHA:48431
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
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s... ORPHA:96
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis, Paresthesia ORPHA:640
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... ORPHA:98890
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Dystonia 12
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dysphagia OMIM:128235
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Tremor, Motor conduction block, Choreoathetosis, Axona... ORPHA:206594
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Ceroid Lipofuscinosis, Neuronal, 8
Loss of ambulation, EEG abnormality, Ataxia, Myoclonus OMIM:600143
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Hypergonadotropic hypogonadism, Ataxia, Hypogonadotropic hypogona... OMIM:604168
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... ORPHA:254343
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Spastic paraparesis ORPHA:67047
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Waddling gait, Ataxia, Sensorineural hearing impairment, Babinski sign, Distal sensory impairment... OMIM:617882
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Hypoplasia of the pons, EEG with burst suppression, Optic atrophy, Cerebellar... OMIM:619303
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... OMIM:612716
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, EEG with spike-wave complexes OMIM:614018
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Dysphagia, Dystonia, Abnormal posturing OMIM:304700
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... OMIM:607876
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Hearing impairment, Truncal ataxia, Attenuation of ret... OMIM:614504
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis ORPHA:231445
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... ORPHA:101109
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Monomelic Amyotrophy
Tremor, Fasciculations, Abnormality of peripheral nerve conduction ORPHA:65684
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dy... ORPHA:240103
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia, Failure to thrive OMIM:250620
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Ataxia, Anteverted ears, Inability to walk, Multifocal epileptiform discharges, Dysmetria, Cerebe... OMIM:618087
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di... ORPHA:98764
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Babinski sign, Ankle clonus, Progressi... ORPHA:506353
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl... ORPHA:521406
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Dystonia... ORPHA:52368
Optic Atrophy 11
Ataxia, Optic nerve hypoplasia, Macrotia, Gait apraxia, Optic atrophy, EEG with focal sharp waves... OMIM:617302
Spinocerebellar Ataxia 47
Ataxia, Chorea, Dysmetria, Low-set ears, Spasticity, Cerebellar vermis atrophy OMIM:617931
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Spastic paraplegia OMIM:250500
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus, Interictal epileptiform activity OMIM:615400
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Babinski sign, D... ORPHA:88644
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Exaggerated startle respon... OMIM:616881
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Decreased compound muscle action potential amplitude, Babinski sign, Imp... OMIM:618279
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Axonal degeneration, Gait disturbance OMIM:616155
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
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 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Broad-based... OMIM:615490
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration, Falls, Clonus, Tongue fasciculations OMIM:618811
Benign Adult Familial Myoclonic Epilepsy
EEG abnormality, Myoclonus, Hand tremor ORPHA:86814
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repe... OMIM:619470
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Peripheral axonal neuropathy, A... OMIM:617225
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Macular degenerati... OMIM:619780
Mitochondrial Myopathy With Lactic Acidosis
Spasticity, Tip-toe gait, Dysmetria, Dystonia OMIM:251950
Spastic Paraplegia 20, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Abnormal cerebellum morphology, Babinski sign, Spastic... OMIM:275900
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, EEG abnormality, Myoclonus, Difficulty walking, Dystonia, Spasticity OMIM:617829
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Roussy-Lévy Syndrome
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Somatic sensory dysfunct... ORPHA:3115
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:607734
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Distal sensory impairment, Paralysis OMIM:605285
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dysdiadochokinesis, Dysmetria OMIM:619903
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Failure to thrive, Tremor, Inability to walk, Optic at... OMIM:617988
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Parkinsonism, Paraparesis, Tetraparesis, Extrapyramidal dyskinesia, Apraxia OMIM:105550
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Hyp... OMIM:617710
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... ORPHA:206443
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Dysmetria, Gait ataxia ORPHA:320385
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Epilepsy, Progressive Myoclonic, 8
EEG with photoparoxysmal response, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Fal... OMIM:616230
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Tip-toe gait, Gait disturbance... ORPHA:216866
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Abnormal medulla obl... ORPHA:206448
Leukodystrophy, Hypomyelinating, 21
Cerebellar atrophy, Ataxia, Optic atrophy, Athetosis, Tetraparesis, Dystonia, Failure to thrive OMIM:619310
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... ORPHA:99947
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... ORPHA:314632
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Prolonged somatosensory evoked potentials, Hand tremor, Myoc... OMIM:608105
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... OMIM:300423
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Difficulty walking OMIM:619425
Acute Peripheral Arterial Occlusion
Paresthesia, Impaired distal tactile sensation, Paralysis ORPHA:90064
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Impaired distal proprioception... OMIM:616688
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Paralysis OMIM:300857
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Cerebellar atrophy, Ataxia, Dysmetria OMIM:618384
Frontotemporal Dementia With Motor Neuron Disease
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... ORPHA:275872
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Spastic tetraparesis, Optic atrophy, Abnormal pyramidal sign, Bradykinesia, Spastic... OMIM:619052
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... OMIM:615651
Spermatogenic Failure, X-Linked, 6
Male infertility, Recurrent pneumonia, Coiled sperm flagella, Reduced sperm motility, Absent sper... OMIM:301101
Retinal Dystrophy With Leukodystrophy
Waddling gait, Truncal titubation, Prominent ear helix, Dysmetria, Falls, Rod-cone dystrophy OMIM:618863
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy, Ataxia ORPHA:85297
Deafness, Autosomal Dominant 86
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus OMIM:620280
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired distal proprioception, Tremor, Impaired vibration sensation in the lower limbs, Hyperton... ORPHA:137898
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Chorea, Babinski sign, Optic atrophy, Abnormality of extrapyramidal motor function, Spast... OMIM:258501
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... ORPHA:53583
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, EEG abnormality, Dystonia OMIM:617836
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
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
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Leukodystrophy, Hypomyelinating, 9
Lower limb spasticity, Ataxia, Babinski sign, Dysmetria, Pseudobulbar paralysis, Abnormality of e... OMIM:616140
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Peripheral axonal neuropa... ORPHA:101077
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spinocerebellar Ataxia Type 3
Abnormal vestibular function, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progress... ORPHA:98757
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia ORPHA:98809
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi... OMIM:618587
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Im... ORPHA:100993
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz) OMIM:616366
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Ataxia, Hemiplegia/hemiparesis, Retrobulbar optic neuritis, Optic atrophy, Abnormal pyramidal sig... ORPHA:3151
Acute Transverse Myelitis
Impaired vibratory sensation, Somatic sensory dysfunction, Dysesthesia, Paraparesis, Dissociated ... ORPHA:139417
Parkinson Disease 22, Autosomal Dominant
Restless legs, Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favora... OMIM:616710
Spinocerebellar Ataxia Type 32
Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy ORPHA:276183
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, EEG abnormality, Ataxia, Gait ataxia OMIM:617831
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Vocal cord paralysis OMIM:607641
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... OMIM:600363
Episodic Ataxia Type 3
Episodic ataxia, Vertigo, Hemiplegia, Tinnitus ORPHA:79135
Mast Syndrome
Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokinesis, Hypertonia, Spa... OMIM:248900
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnorm... ORPHA:329284
Spinocerebellar Ataxia 11
Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia OMIM:604432
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, D... OMIM:610217
Manganese Poisoning
Decreased female libido, Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Impotence, H... ORPHA:306682
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walki... ORPHA:330050
Cach Syndrome
Cerebellar atrophy, Optic atrophy, Spastic diplegia, Dysmetria, Limb ataxia, Hemiparesis, Abnorma... ORPHA:135
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Dystonia, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubation, Bradykine... ORPHA:225147
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... OMIM:615528
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Variegate Porphyria
Paralysis OMIM:176200
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... OMIM:617862
Autosomal Recessive Spastic Paraplegia Type 46
Lower limb spasticity, Broad-based gait, Abnormal sperm morphology, Ataxia, Babinski sign, Abnorm... ORPHA:320391
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Tremor, Sensorineural hearing impairment, Distal senso... OMIM:118300
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Torticollis, Impaired vibratory sensation, Peripheral ... OMIM:619686
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Cerebellar atrophy, Impaired vibratory sensation, Decr... OMIM:607250
Pontine Tegmental Cap Dysplasia
Ataxia, Facial palsy, Head titubation, Sensorineural hearing impairment, Dysmetria, Ankle clonus,... OMIM:614688
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic paraplegia, Spastic gait, Dysmetria, Gait ataxia OMIM:615031
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... ORPHA:43
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis OMIM:302802
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Spinocerebellar Ataxia Type 42
Resting tremor, Psoriasiform dermatitis, Upper limb postural tremor, Vertigo, Babinski sign, Unst... ORPHA:458803
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia... ORPHA:1215
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia, Hearing impa... ORPHA:139485
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Lower limb spasticity, Ataxia, Dysmetria, Pseudobulbar paralysis, Lower limb hypertonia, Difficul... ORPHA:438114
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Rabies
Vocal cord paresis, Cerebral palsy, Paresthesia ORPHA:770
Limb Defects, Distal Transverse, With Mental Retardation And Spasticity
Spastic paraplegia OMIM:246555
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Ataxia, Rigidity, Unsteady gait, Limb ataxia, Gait ataxia, Spastic ... ORPHA:98760
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Ataxia, Retinal dystrophy, Sensorineural hearing impairment, Optic atrophy, A... OMIM:614559
Mitochondrial Complex I Deficiency, Nuclear Type 10
Broad-based gait, Ataxia, Optic atrophy, Dysmetria OMIM:618233
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
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Episodic Ataxia, Type 5
Ataxia, Vertigo, EEG with generalized spikes, Myoclonus, Truncal ataxia, Episodic ataxia, EEG wit... OMIM:613855
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition... OMIM:600795
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomoto... OMIM:612438
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Inability to walk, Self-injurious behavior, Dystonia, Spasticity, Abnormal... OMIM:617820
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Opisth... OMIM:607483
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... ORPHA:90117
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, EEG abnormality, ... OMIM:617665
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... OMIM:607346
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Ataxia, Myoclonus, Interictal epileptiform activity, EEG with ... OMIM:254800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia, Cerebellar dysplasia OMIM:615041
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hypoesthesia, Vocal cord paralysis, Hand paresthesia OMIM:162500
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance ORPHA:228169
Intellectual Developmental Disorder, Autosomal Recessive 61
Posteriorly rotated ears, Clonus, Babinski sign, Unsteady gait, Dysmetria, Hypsarrhythmia, EEG ab... OMIM:617773
Spinocerebellar Ataxia 27B, Late-Onset
Vertigo, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Ankle clonus, Bradykinesia, Hy... OMIM:617435
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Cochlear degeneration, Hearing impairment OMIM:271250
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... ORPHA:71517
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal pyramidal sign, Pigmentary retinopathy, Gait imbalance, Loss of ambulation, Limb dysmetr... ORPHA:329336
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... ORPHA:101085
Bile Acid Synthesis Defect, Congenital, 6
Slurred speech, Ataxia, Dysmetria, Gait ataxia OMIM:617308
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia OMIM:261630
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
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Babinski s... ORPHA:171629
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Intellectual Developmental Disorder, X-Linked 104
Abnormal pinna morphology, Ataxia, Tremor, Optic atrophy, Spasticity OMIM:300983
Kennedy Disease
Gait disturbance, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Impaired dista... OMIM:270685
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Gait ata... ORPHA:225154
Huntington Disease-Like 3
Abnormal head movements, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal pyr... ORPHA:157946
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Spastic parap... OMIM:618527
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Sensorineural he... OMIM:617519
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Sensorineural hearing impairment, Optic atrophy, Abnormal pyramidal sign, Tet... OMIM:300475
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Abnormal pyramidal sign, Dyst... ORPHA:280219
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Tinnitus OMIM:608224
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,... OMIM:617282
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... OMIM:603472
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Ataxia, Low-set ears OMIM:618951
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Babinski sign, Spastic para... ORPHA:100988
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Impotence, Hypogona... OMIM:300100
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy DECIPHER:59
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Somatic sensory dysfunction, Optic atrophy, Gait ataxia, Progressive cerebellar ataxia, Paresthes... ORPHA:466794
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ... OMIM:618718
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Small for gestational age OMIM:278780
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Pigmentary ... OMIM:617675
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rig... ORPHA:98759
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
High-frequency sensorineural hearing impairment, Waddling gait, Tremor, Inability to walk, Sensor... ORPHA:2590
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Periodic paralysis OMIM:614198
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Optic neuropathy, Akinesia, Optic a... OMIM:618249
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Progressive truncal ataxia, Focal EEG discharges with secondary generalizatio... ORPHA:263516
Spinocerebellar Ataxia, Autosomal Recessive 28
Cerebellar vermis hypoplasia, Truncal titubation, Optic atrophy, Abnormal pyramidal sign, Gait at... OMIM:618800
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... OMIM:606159
X-Linked Dystonia-Parkinsonism
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... ORPHA:53351
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Optic disc pallor, Ataxia, Inability to walk, Multifocal epileptiform dischar... OMIM:617166
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... OMIM:618056
Parkinsonism-Dystonia 3, Childhood-Onset
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Hypertonia, Hyperkinetic mov... OMIM:619738
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Brain atrophy, Dystonia, Cerebral cortical hemia... ORPHA:306669
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance, Myoclonus, Spastic pa... ORPHA:391417
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis, Bronchiectasis ORPHA:2375
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia,... ORPHA:502423
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Sensorineural hearing impairment, Difficulty walking, Dystonia, Hearing impairment OMIM:616684
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to ... ORPHA:845
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Ataxia, Facial palsy, Hearing impairment, Abnormal retinal morphology, Optic ... ORPHA:254886
Scorpion Envenomation
Hemifacial spasm, Acute pancreatitis, Ataxia, Tremor, Myocarditis, Hyperkinetic movements, Parest... ORPHA:466677
Juvenile Sialidosis Type 2
Lower limb spasticity, Ataxia, Optic atrophy, Dysmetria, Myoclonus, Low-set ears, Loss of ambulat... ORPHA:93399
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Frequent falls, Crani... OMIM:620011
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Chorea, Optic atroph... ORPHA:401768
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Babinski sign, Impotence, Pseudobulbar paralysis, Spasticity, Autonomic erectile dysfunction OMIM:169500
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Sensorineural hearing impairment, Abnormal pyramidal sign, Paraplegia, Limb ataxi... OMIM:105210
Atypical Rett Syndrome
Restrictive behavior, Dystonia, Involuntary movements, Tremor, Inability to walk, Tongue thrustin... ORPHA:3095
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration ORPHA:3233
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Ataxia, Rigidity, Babinski sign, Abnormal pyramidal sign, Gait apraxia, Dysmetria, Abnormality of... OMIM:600142
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysesthesia, Dysmetria, Gait ataxia, Bradykinesia, Gait disturban... ORPHA:93256
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr... ORPHA:247234
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, EEG abnormality, Dystonia OMIM:612126
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... OMIM:300894
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Retinal atrophy, Ataxia, Retinal dystrophy, Elong... ORPHA:370022
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Superficial Siderosis
Cerebellar atrophy, Ataxia, Impaired temperature sensation, Impaired pain sensation, Babinski sig... ORPHA:247245
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Mepan Syndrome
Cerebellar atrophy, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Gait d... ORPHA:508093
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Low-set ears, Fa... ORPHA:477673
Familial Paroxysmal Ataxia
Torticollis, Ataxia, Vertigo, Dystonia, Hemiplegia, Tinnitus ORPHA:97
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Parkinsonism with favor... ORPHA:240085
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Speech apraxia, Ataxia, Dysmetria, Intention tremor OMIM:619352
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potenti... OMIM:619260
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... OMIM:618218
Leber Optic Atrophy
Postural tremor, Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro... OMIM:535000
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Myoclonus... OMIM:617854
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Clasp-knife sign, Optic neuropathy,... ORPHA:101076
Galloway-Mowat Syndrome 2, X-Linked
Cerebellar atrophy, Spasticity, Dysmetria OMIM:301006
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... ORPHA:442835
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Axonal degeneration OMIM:618138
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Medulloblastoma
Ataxia, Cerebellar calcifications, Dysmetria, Abnormal cranial nerve morphology, Progressive cere... ORPHA:616
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Episodic Ataxia Type 4
Abnormal head movements, Frequent falls, Incoordination, Ataxia ORPHA:79136
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A... ORPHA:3077
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis, Pulsatile tinnitus OMIM:601650
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia ... OMIM:617523
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Piebald Trait With Neurologic Defects
Ataxia, Hearing impairment OMIM:172850
Spinocerebellar Ataxia 32
Azoospermia, Ataxia, Infertility, Testicular atrophy OMIM:613909
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Progressive hearing impairment, Abnorm... ORPHA:97229
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Gait ataxia ORPHA:90103
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Inability to w... ORPHA:139396
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Spastic paraparesis, Palatal tremor, Truncal ataxia OMIM:113610
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
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Hearing impairment, Tremor, Head ... OMIM:312080
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Broad-based gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Hypertonia, Cerebellar hypoplasia OMIM:619761
Spinocerebellar Ataxia Type 7
Cerebellar atrophy, Cone/cone-rod dystrophy, Somatic sensory dysfunction, Ataxia, Babinski sign, ... ORPHA:94147
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Maternal Uniparental Disomy Of Chromosome 4
Impaired vibratory sensation, Ataxia, Chaddock reflex, Sensorineural hearing impairment, Optic at... ORPHA:96180
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ... OMIM:618917
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Impaired distal vibration sensation, Impaired distal tactile sensation, Impai... OMIM:607706
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spinocerebellar Ataxia 34
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G... OMIM:133190
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at... ORPHA:98768
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Dysphagia OMIM:618637
Lethal Congenital Contracture Syndrome 8
Vocal cord paralysis, Distal sensory impairment OMIM:616287
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... OMIM:614575
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia OMIM:617106
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins... OMIM:614298
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebellar atrophy, Ataxia, Inability to walk, Optic atrophy, Dysmetria, Spasticity OMIM:619576
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Paraparesis, Ataxia, Tetraparesis ORPHA:27
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Delayed CNS myelination, Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to ... OMIM:618877
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Chorioretinal dystrophy, Ataxia, Retinal dystrophy, Gait ataxia, Spinocerebel... OMIM:215470
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Head titubation, Optic atrophy, Dysmetria, Ce... OMIM:619708
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Diff... OMIM:159950
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, G... ORPHA:275864
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Facial diplegia, Truncal ataxia, Sen... OMIM:619121
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Gait d... ORPHA:289560
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Lower limb spasticity, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, ... ORPHA:352641
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,... OMIM:245348
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Broad-based gait, Distal sensory impairment, Gait ataxia, Sensory ataxia, Steppage gait, Difficul... OMIM:614895
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Optic atrophy, Choreoathetosis, Cerebellar hypoplasia, Bilateral sensorineural he... OMIM:619422
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocerebellar atro... ORPHA:95433
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Cerebellar atrophy, Chronic axonal neuropathy, Periphe... OMIM:606002
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh... OMIM:137440
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... ORPHA:572798
Autosomal Dominant Spastic Paraplegia Type 73
Lower limb spasticity, Progressive spastic paraparesis, Babinski sign, Spastic gait, Progressive ... ORPHA:444099
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Axonal degeneration, Gait ataxia, Gait disturbance, Abnormal peripher... ORPHA:88628
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Tinnitus, Progressive hearing impairment OMIM:193005
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Moyamoya Disease 6 With Or Without Achalasia
Hemiparesis, Impotence OMIM:615750
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Hypergonadotropic hypogonadism, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms OMIM:612069
Richards-Rundle Syndrome
Hypergonadotropic hypogonadism, Ataxia, Hypertonia, Gait disturbance, Hearing impairment ORPHA:1399
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Ataxia, Optic atrophy, Dysmetria, Yellow/white lesions of the retina, My... ORPHA:93400
Charcot-Marie-Tooth Disease Type 4A
Impaired distal proprioception, Impaired pain sensation, Inability to walk, Impaired distal vibra... ORPHA:99948
Kallmann Syndrome
Dyspareunia, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Sensorineural hearing... ORPHA:478
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Testicular atrophy, Decreased fertility, Fasciculations OMIM:313200
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Impaired proprioception, Hand tremor, Head tremor, Gait disturbance, Oligomenorrhea, Truncal atax... ORPHA:412057
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Ataxia, Involuntary movements, Delayed myelination, Choreoathetosis, Dystonia, Spasticity, Limb h... OMIM:615905
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Unsteady gait, Dysmetria, Hand tremor, Protruding ear, Truncal obesity, Abnormal antihelix morpho... ORPHA:3041
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Peripheral axonal neuropathy, Ataxia, Impaired distal proprioception, Hypoesthe... OMIM:607459
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Slurred speech, Ataxia, Myoclonus OMIM:274240
Classic Galactosemia
Speech apraxia, Male infertility, Incoordination, Ataxia, Postural tremor, Premature ovarian insu... ORPHA:79239
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Leukodystrophy, Dystonia, Loss of ambulation OMIM:615010
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... OMIM:617013
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Failure to thrive, Ataxia, Facial palsy, Sensorineural... ORPHA:456312
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Impotence, Distal sensory impairment, Sensorineural hearing impairment OMIM:608088
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Large fleshy ears, Hypertonia, Cerebellar hypoplasia, Failure ... OMIM:619556
Crigler-Najjar Syndrome Type 1
Tremor, Hearing impairment ORPHA:79234
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor... OMIM:300957
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py... ORPHA:101070
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Spasticity, G... OMIM:616811
Primary Lateral Sclerosis
Weakness due to upper motor neuron dysfunction, Progressive spastic paraparesis, Babinski sign, S... ORPHA:35689
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff... ORPHA:98772
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Sandifer Syndrome
Abnormal head movements, Abnormal posturing, Torticollis ORPHA:71272
Neuraminidase Deficiency
Sensorineural hearing impairment, Slurred speech, Dysmetria, Myoclonus, Cherry red spot of the ma... OMIM:256550
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus OMIM:612016
Huntington Disease-Like 2
Rigidity, Chorea, Bradykinesia, Dystonia, Action tremor OMIM:606438
Adrenomyeloneuropathy
Female sexual dysfunction, Peripheral axonal degeneration, Atrophy/Degeneration involving the cor... ORPHA:139399
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Sickle Cell Disease
Priapism OMIM:603903
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Retinal atrophy, Re... OMIM:615960
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Hypertonia, Myoclonus... OMIM:619092
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Cerebellar atrophy, Clonus, Babinski sign, Optic atrophy, Progressive cerebellar ataxia, EEG abno... OMIM:618868
Autosomal Dominant Spastic Paraplegia Type 9B
Peripheral axonal neuropathy, Postural tremor, Atrophy of the spinal cord, Babinski sign, Focal d... ORPHA:447757
Familial Cervical Artery Dissection
Paresthesia, Paralysis ORPHA:36382
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Poor coordination, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Di... ORPHA:478029
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal py... ORPHA:240071
Glutathionuria
Tremor, Dysdiadochokinesis, Eczema, Action tremor OMIM:231950
Spastic Tetraplegia And Axial Hypotonia, Progressive
Lower limb spasticity, Exaggerated startle response, Ataxia, Posteriorly rotated ears, Spastic te... OMIM:618598
Bilateral Perisylvian Polymicrogyria
Cerebellar dysplasia, Lower limb spasticity, EEG with polyspike wave complexes, Cerebellar vermis... ORPHA:98889
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Perineural Cyst
Dyspareunia, Somatic sensory dysfunction, Dissociated sensory loss, Inability to walk, Neurogenic... ORPHA:65250
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Machado-Joseph Disease Type 1
Abnormal vestibular function, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis,... ORPHA:276238
Machado-Joseph Disease Type 2
Abnormal vestibular function, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis,... ORPHA:276241
Spinocerebellar Ataxia 21
Delayed CNS myelination, Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxi... OMIM:607454
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity, Dense calcificat... ORPHA:542310
Whipple Disease
Myositis, Pericarditis, Ataxia, Myocarditis, Abnormal pyramidal sign, Uveitis, Arthritis, Myoclon... ORPHA:3452
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Abnormal motor evoked potentials, Abnormal cerebell... ORPHA:909
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Sensorineural hearing impairment, Dysmetria, Truncal obesity, Dysdiadoc... OMIM:616541
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... ORPHA:282166
Oculopharyngodistal Myopathy 3
Conductive hearing impairment, Sensorineural hearing impairment, Ataxia, Tremor OMIM:619473
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Degeneration of anterior horn cells, Diaphragmatic paralysis, Axo... OMIM:604320
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence OMIM:146500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Inability to walk, Cerebellar hypo... OMIM:613155
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Hyperlysinemia
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, EEG with spike-wave complexes, Tr... ORPHA:2203
Progressive Multifocal Leukoencephalopathy
Somatic sensory dysfunction, Weakness due to upper motor neuron dysfunction, Parkinsonism, Hemipl... ORPHA:217260
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Disinhibition, Dy... OMIM:168605
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... ORPHA:247815
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Impaired vibratory sensation, Impaired distal proprioception, Impaired pain sensation, Unsteady g... ORPHA:101097
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Arthritis, Vocal cord paralysis, Bilateral sensorineural hearing impairment ORPHA:397744
Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoat... OMIM:615673
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Olivopontocer... OMIM:212065
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... OMIM:618060
Glioblastoma
Paralysis ORPHA:360
Foix-Alajouanine Syndrome
Somatic sensory dysfunction, Dysesthesia, Progressive spastic paraparesis, Unsteady gait, Male se... ORPHA:79093
Young-Onset Parkinson Disease
Tremor, Rigidity, Spasticity, Bradykinesia, Male sexual dysfunction, Gait imbalance, Dystonia, Fe... ORPHA:2828
De Sanctis-Cacchione Syndrome
Ataxia, Bilateral cryptorchidism, Babinski sign, Scissor gait, Axonal degeneration, Optic atrophy... OMIM:278800
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Hypergonadotropic hypogonadism, Tremor, Retrobulbar optic neuritis,... OMIM:619737
Hemochromatosis, Type 3
Arthritis, Impotence, Hypogonadotropic hypogonadism, Amenorrhea OMIM:604250
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Spastic tetraplegia, ... ORPHA:3240
Cystathioninuria
Tremor ORPHA:212
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, EEG with spike-wave c... ORPHA:36387
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Cachexia, Decreased nerve ... ORPHA:206436
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Cryptorchidism, Sensorineural hearing impairment, Hypertonia, Gait disturbance ORPHA:1192
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Bradykinesia, Spastic tetraplegia, Spastic paraparesis OMIM:615643
Oculopharyngodistal Myopathy
Paraplegia, Difficulty walking, Loss of ambulation, Progressive sensorineural hearing impairment,... ORPHA:98897
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia ORPHA:70594
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Machado-Joseph Disease Type 3
Abnormal vestibular function, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis,... ORPHA:276244
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p... OMIM:168600
Congenital Disorder Of Glycosylation, Type Ie
Ataxia, Tremor, Optic atrophy, EEG abnormality, Pontocerebellar atrophy, Failure to thrive, Retin... OMIM:608799
Primary Progressive Freezing Gait
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Dysphagia, Bradykinesia, Shuffli... ORPHA:75567
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Anteverted ears, Tremor, Poor coordination, Gait disturbance, Abnormality of pain sensati... ORPHA:544254
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Sandhoff Disease
Exaggerated startle response, Ataxia, Impaired temperature sensation, Impotence, Fasciculations, ... OMIM:268800
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abnormal vestibulo-ocula... OMIM:193003
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased nerve conducti... OMIM:218000
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... OMIM:616586
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... ORPHA:64753
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... OMIM:311510
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Difficulty walking, ... ORPHA:280210
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Ataxia OMIM:300619
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Neurofibromatosis, Familial Spinal
Paraparesis OMIM:162210
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Ciliary Dyskinesia, Primary, 9
Male infertility, Pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent sinusitis, Recurrent oti... OMIM:612444
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Bronchiectasis, Chronic otitis media, Recurrent sinusitis OMIM:300991
Developmental And Epileptic Encephalopathy 46
Tremor, Failure to thrive, Hypsarrhythmia, Limb hypertonia OMIM:617162
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Sensorineural hearing impairment, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue ... OMIM:211530
Trisomy X
Tremor, Attention deficit hyperactivity disorder ORPHA:3375
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
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
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... ORPHA:363400
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism ORPHA:178509
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Abnormal autonomic ner... OMIM:616840
Snakebite Envenomation
Pseudobulbar paralysis, Respiratory paralysis, Paralysis ORPHA:449285
Developmental And Epileptic Encephalopathy 4
Delayed CNS myelination, Tremor, Spastic paraplegia, Spastic tetraplegia, Choreoathetosis, Cerebr... OMIM:612164
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Hemochromatosis, Type 4
Impotence, Osteoarthritis OMIM:606069
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive... ORPHA:2821
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebel... OMIM:615181
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Short ear, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Positive Romberg sign, Cere... ORPHA:314647
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Recurrent hand flapping, Self-biting OMIM:300624
Metachromatic Leukodystrophy, Late Infantile Form
Babinski sign, Spasticity, Gait ataxia, Clumsiness, Progressive gait ataxia, Tip-toe gait, Decere... ORPHA:309256
Sneddon Syndrome
Tremor, Vertigo, Chorea, Hemiparesis ORPHA:820
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Chorea, Myoclonus, Attention deficit hyperactivity disorder, Recur... OMIM:617600
Abetalipoproteinemia
Impaired vibratory sensation, Abnormality of retinal pigmentation, Broad-based gait, Ataxia, Hypo... ORPHA:14
Nipah Virus Disease
Tremor, Vertigo, Infectious encephalitis, Myoclonus ORPHA:99825
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Alexander Disease Type Ii
Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor ORPHA:363722
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Macrotia, Ce... ORPHA:457240
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... OMIM:168601
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Leukodystrophy, Hypomyelinating, 2
Ataxia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Progressive spasticity, Spasti... OMIM:608804
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Tremor, Macrotia, Optic atrop... ORPHA:90321
Caribbean Parkinsonism
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... ORPHA:97355
Cockayne Syndrome Type 2
Lower limb spasticity, Ataxia, Cryptorchidism, Uveitis, Limb hypertonia, Conjunctivitis, Gait dis... ORPHA:90322
Sialidosis Type 1
Ataxia, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Slurred sp... ORPHA:812
Sialidosis Type 2
Tremor, Ataxia, Hearing impairment ORPHA:87876
Progressive Supranuclear Palsy
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dysph... ORPHA:683
Hjv Or Hamp-Related Hemochromatosis
Impotence, Hypogonadism ORPHA:79230
Aceruloplasminemia
Abnormality of retinal pigmentation, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary mov... ORPHA:48818
Prolactinoma
Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnorma... ORPHA:2965
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, Impaired vibrat... ORPHA:447753
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Tetraparesis OMIM:602080
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Non-Functioning Paraganglioma
Pulsatile tinnitus, Tremor, Paroxysmal vertigo, Vocal cord paralysis, Conductive hearing impairment ORPHA:94080
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Parkinsonism, Fa... OMIM:157640
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Non-Functioning Pituitary Adenoma
Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypogonadism, Female hypo... ORPHA:91349
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Agenesis of corpus callosum, Abnormal auditory evoked potentials OMIM:109120
Neuroferritinopathy
Resting tremor, Dystonia, Parkinsonism, Writer's cramp, Involuntary movements, Chorea, Babinski s... ORPHA:157846
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... OMIM:609136
Congenital Myopathy 15
Waddling gait, Vocal cord paralysis OMIM:620161
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Mild neurosensory hearing impairment, Distal sensory impairment, Steppage gait, Positive Romberg ... OMIM:601152
Classic Phenylketonuria
Tremor, Paraplegia, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder... ORPHA:79254
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Chorea, Colitis, Skin rash OMIM:616744
Pituicytoma
Impotence, Decreased female libido, Hypogonadotropic hypogonadism, Amenorrhea ORPHA:251623
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Sensorineural hearing... ORPHA:99956
Attrv30M Amyloidosis
Impotence ORPHA:85447
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Dysphagia OMIM:619790
Metachromatic Leukodystrophy, Juvenile Form
Babinski sign, Spasticity, Clumsiness, Progressive gait ataxia, Decerebrate rigidity, Leukodystro... ORPHA:309263
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... ORPHA:765
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Tsh-Secreting Pituitary Adenoma
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Decreased fertility ... ORPHA:91347
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Paraparesis, Cerebral palsy, Spastic tetraparesis OMIM:620358
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, EEG with focal spike waves, Ataxia, Tremor, Unsteady gait, Abn... ORPHA:1942
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations, Pa... ORPHA:682
Japanese Encephalitis
Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Opisthotonus, Choreoathetosis,... ORPHA:79139
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, ... OMIM:615273
Ciliary Dyskinesia, Primary, 45
Male infertility, Bronchiectasis, Chronic rhinitis OMIM:618801
Coasy Protein-Associated Neurodegeneration
Parkinsonism, Spastic paraparesis ORPHA:397725
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Bruxism, Ab... OMIM:618342
Amyotrophic Lateral Sclerosis
Spasticity, Paralysis ORPHA:803
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation,... ORPHA:466768
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Paralysis ORPHA:83601
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Inhalational Botulism
Paralysis ORPHA:254504
Rift Valley Fever
Skin rash, Paralysis, Paraparesis, Vertigo, Hepatitis, Uveitis, Hemiparesis, Decerebrate rigidity... ORPHA:319251
Poliomyelitis
Paralysis, Paraparesis, Inability to walk, Hyperkinetic movements, Paresthesia, Fasciculations, I... ORPHA:2912
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Incoordination, Paralysis, Tremor, Vertigo, Hyperkin... ORPHA:297
Hypotonia, Ataxia, And Delayed Development Syndrome
Cerebellar atrophy, Speech apraxia, Pain insensitivity, Cerebellar vermis hypoplasia, Ataxia, Bro... OMIM:617330
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Acne, Oligozoospermia ORPHA:3000
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance, Abnormal optic nerve m... ORPHA:83629
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
African Trypanosomiasis
Tremor, Impaired proprioception, Choreoathetosis, Conjunctivitis, Iritis, Abnormal central motor ... ORPHA:3385
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Intention tremor, Spasticity, Ataxia, Hearing impairment OMIM:117300
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Gait... ORPHA:98794
Porphyria, Acute Intermittent
Respiratory paralysis, Paresthesia, Paralysis OMIM:176000
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Decreased nerve conduction velocity, Tremor, Facial diplegia, Fasciculations, Diffi... ORPHA:329478
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Dysmetria, Failure to thrive OMIM:616263
Chronic Bilirubin Encephalopathy
Cerebral palsy, Hypertonia, Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Hypertonia, Sensorineural hearing impairment, Cerebral palsy, Abnormal auditory evoked potentials ORPHA:529799
Ataxia-Telangiectasia
Ataxia, Tremor, Gait disturbance, Spasticity, Abnormal testis morphology ORPHA:100
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Sensorineural hearing impairment, Babinski sign, Opti... ORPHA:314404
Developmental And Epileptic Encephalopathy 82
Spastic tetraplegia, Spastic paraparesis OMIM:618721
Deafness, Unilateral
Unilateral deafness OMIM:125000
East Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Inability to walk, Sensorineural hearin... ORPHA:199343
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Cerebral palsy, Ataxia, Skin rash, Hemiplegia/hemiparesis, Sensorineural hearing im... ORPHA:36412
Ciliary Dyskinesia, Primary, 34
Male infertility, Bronchiectasis, Immotile sperm, Recurrent sinusitis, Chronic rhinitis OMIM:617091
Amish Nemaline Myopathy
Tremor ORPHA:98902
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Hearing impairment OMIM:278760
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Parkinsonism, Paraparesis, Abnormality of extrapyramidal motor function, Progressive spas... ORPHA:2822
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, C... OMIM:615356
Charcot-Marie-Tooth Disease Type 4C
Impaired pain sensation, Inability to walk, Sensorineural hearing impairment, Impaired distal vib... ORPHA:99949
Metachromatic Leukodystrophy, Adult Form
Chorea, Babinski sign, Spasticity, Clumsiness, Progressive spastic quadriplegia, Progressive gait... ORPHA:309271
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Cockayne Syndrome A
Cerebellar atrophy, Retinal atrophy, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked ... OMIM:216400
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Impotence, Oligomenorrhea ORPHA:91354
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Hyperactivity, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babins... OMIM:234200
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Unsteady gait, Obesity, Dysmetria, Abnormal earlobe morphology... ORPHA:96121
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis, Pulsatile tinnitus OMIM:605373
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Somatic sensory dysfunction, Dysesthesia, Vertigo, Babin... ORPHA:268882
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hemiparesis, Paraparesis, Paraplegia ORPHA:79124
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media OMIM:618948
Symptomatic Form Of Hfe-Related Hemochromatosis
Hypogonadotropic hypogonadism, Arthritis, Infertility, Erectile dysfunction, Testicular atrophy, ... ORPHA:465508
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyp... ORPHA:98784
Childhood Absence Epilepsy
Limb myoclonus, Punding, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Amenorrhea OMIM:235200
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... ORPHA:199351
Pheochromocytoma/Paraganglioma Syndrome 1
Conductive hearing impairment, Vocal cord paralysis, Pulsatile tinnitus OMIM:168000
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granu... OMIM:601104
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Small for gestational age, Abnormal auditory evoked potentials, Failure to th... OMIM:193700
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Tip-toe gait, Gait disturban... ORPHA:512
Farber Disease
Paraparesis, Spasticity, Myoclonus ORPHA:333
Jeavons Syndrome
Limb myoclonus, Abnormal head movements ORPHA:139431
Cockayne Syndrome B
Ataxia, Cerebellar calcifications, Abnormal auditory evoked potentials, Small for gestational age... OMIM:133540
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Uveitis, Arthritis, Conjunctivitis, Hearing impairment OMIM:120100
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Hypergonadotropic hypogonadism, Tremor, Sensorineural hearing impairment, Myoclonus, Loss... OMIM:607426
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Optic nerve... OMIM:615574
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Abnormal social behavior ORPHA:1020
Typhoid
Ataxia, Skin rash, Tremor, Hypertonia, Infectious encephalitis ORPHA:99745
Gaucher Disease, Type Iii
Ataxia, Myoclonus, Spastic paraparesis OMIM:231000
Prune1-Related Neurological Syndrome
Spastic tetraparesis, Clonus, Tongue fasciculations, Spastic paraparesis ORPHA:544469
Wolfram Syndrome 1
Ataxia, Tremor, Sensorineural hearing impairment, Optic atrophy, Testicular atrophy OMIM:222300
Arachnoid Cyst
Hemiparesis, Paraparesis, Slurred speech, Tetraparesis ORPHA:2356
6Q Terminal Deletion Syndrome
Low-set, posteriorly rotated ears, Obesity, Dysmetria, Gait ataxia, Hypsarrhythmia, Cerebellar hy... ORPHA:75857
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Attention deficit hyperac... OMIM:619680
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Hearing impairment, Tremor, Cerebellar hypoplas... OMIM:620327
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Dyst... ORPHA:411602
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Small for gestational age, Clonus, Babinski sign, Dysmetria, Gait ataxia... OMIM:606721
Sneddon Syndrome
Tremor, Hemiplegia, Facial palsy, Impaired distal tactile sensation OMIM:182410
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Spastic tetraparesis, Babinski sign, Lower limb hypertonia, Spastic paraparesis, Spastici... ORPHA:3208
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Incoordination, Ataxia, Tremor, Unsteady gait, Optic atrophy, Abnormal pyramid... OMIM:614947
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Oligoz... ORPHA:91348
Ciliary Dyskinesia, Primary, 14
Male infertility, Recurrent pneumonia, Bronchiectasis, Otitis media, Immotile sperm, Chronic sinu... OMIM:613807
Adenohypophysitis
Decreased female libido, Sensorineural hearing impairment, Impotence, Decreased male libido, Hash... ORPHA:95512
Ddost-Cdg
Tremor, Oromotor apraxia, CNS hypomyelination ORPHA:300536
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus, Abnormal myelination ORPHA:289266
Waardenburg Syndrome, Type 4A
Ataxia, Spastic paraparesis OMIM:277580
Unilateral Polymicrogyria
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... ORPHA:268943
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Spastic paraplegia, Optic nerve dysplasia, Obesity, Lower limb hypertonia, Tip-toe gait, Spastic ... OMIM:617296
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Joubert Syndrome With Ocular Defect
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, R... ORPHA:220493
Ciliary Dyskinesia, Primary, 18
Male infertility, Rhinitis, Recurrent sinusitis, Immotile sperm, Recurrent otitis media OMIM:614874
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Dysmetria, Protruding ear, Vitreous hemorrhage, Low-set ... OMIM:620185
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Broad-based gait, Ataxia, Posteriorly rotated ears, Unsteady gait, Poor gross motor co... OMIM:614756
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Bronchiectasis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella OMIM:620197
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Tremor OMIM:605355
Panhypophysitis
Decreased female libido, Sensorineural hearing impairment, Impotence, Decreased male libido, Hash... ORPHA:95513
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination ORPHA:352682
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Abnormal pyramidal sign, Spastic paraparesis OMIM:260600
Tetanus
Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiology, Autonom... ORPHA:3299
Joubert Syndrome With Renal Defect
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, T... ORPHA:220497
Gitelman Syndrome
Vertigo, Ataxia, Paresthesia, Paralysis OMIM:263800
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Giant cell hepatitis, Hypogonadism, Ataxia ORPHA:79095
Sjogren-Larsson Syndrome
Spasticity, Spastic paraparesis OMIM:270200
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Pulsatil... ORPHA:276621
Ataxia-Telangiectasia
Sinusitis, Female hypogonadism, Ataxia, Tremor, Inability to walk, Slurred speech, Bronchiectasis... OMIM:208900
Joubert Syndrome
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Gait disturbance, Low-set ea... ORPHA:475
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Ataxia, Dystonia, Small for gestational age, Tremor, Dysmetria, Low... OMIM:220111
Hereditary Motor And Sensory Neuropathy, Type Iic
Vocal cord paresis, Sensorineural hearing impairment, Distal sensory impairment OMIM:606071
Cinca Syndrome
Skin rash, Uveitis, Arthritis, Progressive sensorineural hearing impairment, Hearing impairment OMIM:607115
Oculodentodigital Dysplasia
Paraparesis, Spasticity, Ataxia, Tetraparesis OMIM:164200
Ciliary Dyskinesia, Primary, 19
Male infertility, Bronchiectasis, Rhinitis, Recurrent sinusitis, Recurrent otitis media OMIM:614935
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Vocal cord paralysis, Myoclonus, Dystonia ORPHA:500144
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal myelination, Dystonia, Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordinat... ORPHA:309854
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Vertigo, Chorea, Athetosis, Limb dys... ORPHA:25
Trisomy 10P
Small for gestational age, Poor motor coordination, Abnormal auditory evoked potentials, Posterio... ORPHA:171929
Scrub Typhus
Anterior uveitis, Skin rash, Tremor, Myocarditis, Infectious encephalitis ORPHA:83317
Gangliocytoma
Impotence, Decreased female libido, Paresthesia, Amenorrhea ORPHA:251937
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis ORPHA:79102
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Low-set ears, Periodic paralysis ORPHA:37553
Lead Poisoning
Somatic sensory dysfunction, Decreased female libido, Skin rash, Abnormality of the menstrual cyc... ORPHA:330015
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Paralysis, Sensorineural hearing impairment, Spastic paraplegia, Limb ataxia, A... ORPHA:2072
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Retinal dystrophy, Ataxia ORPHA:713
Purine Nucleoside Phosphorylase Deficiency
Cerebral palsy, Ataxia, Abnormal central motor function, Hypertonia, Spastic paraparesis, Spasticity ORPHA:760
Poems Syndrome
Hyperesthesia, Hypogonadism, Paresthesia, Erectile dysfunction ORPHA:2905
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Cogan Syndrome
Episcleritis, Abnormal vestibular function, Keratitis, Vertigo, Sensorineural hearing impairment,... ORPHA:1467
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tremor, Inability to walk, Tongue t... ORPHA:72
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intent... OMIM:254900
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity ORPHA:2396
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity... ORPHA:67036
Sheehan Syndrome
Dyspareunia, Decreased female libido, Vertigo, Sensorineural hearing impairment, Impotence, Oligo... ORPHA:91355
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Failure to thrive, Peripheral axonal neuropathy, Ataxia, Faci... ORPHA:254892
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Leukodystrophy, Limb dystonia, ... ORPHA:646
Pelizaeus-Merzbacher Disease In Female Carriers
Hand apraxia, Babinski sign, Lower limb spasticity, Spastic paraparesis ORPHA:280229
Pure Autonomic Failure
Impotence ORPHA:441
Joubert Syndrome With Hepatic Defect
Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Optic disc coloboma, Gait distu... ORPHA:1454
Muckle-Wells Syndrome
Episcleritis, Skin rash, Uveitis, Arthritis, Conjunctivitis, Recurrent aphthous stomatitis, Progr... ORPHA:575
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Progressive spastic paraparesis, Spastic tetraparesis ORPHA:496756
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Primar... ORPHA:2232
Ogden Syndrome
Abnormal head movements, Torticollis, Hypertonia, Shuffling gait ORPHA:276432
Alternating Hemiplegia Of Childhood
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... ORPHA:2131
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Alexander Disease
Ataxia, Facial palsy, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, EEG abnormali... ORPHA:58
Meningioma
Hemifacial spasm, Abnormal central motor function, Hypogonadotropic hypogonadism, Ataxia, Ear pai... ORPHA:2495
Anaplastic Thyroid Carcinoma
Vocal cord paralysis ORPHA:142
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Unsteady gait, Difficulty walking, Distal sensory impairment ORPHA:600
Renal Coloboma Syndrome
Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia, Hearing impairment ORPHA:1475
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, EEG with spike-wave complexes, Tremor, EEG with burst suppression, Hypsarrhyt... ORPHA:1934
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Tip-toe gait, Vocal cord paralysis, Gait disturbance ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Tip-toe gait, Vocal cord paralysis, Gait disturbance ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Tip-toe gait, Vocal cord paralysis, Gait disturbance ORPHA:98853
Triosephosphate Isomerase Deficiency
Optic disc pallor, Tremor, Unsteady gait, Dystonia, Spasticity, Failure to thrive OMIM:615512
Serotonin Syndrome
Restlessness, Clonus, Tremor, Rigidity, Hypertonia, Agitation, Myoclonus ORPHA:43116
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Pulsatil... ORPHA:29072
Glossopharyngeal Neuralgia
Dysesthesia, Ear pain, Vocal cord paralysis ORPHA:221098
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Bronchiectasis, Chronic rhinitis, Conductive hearing impairment, Chr... OMIM:244400
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Bronchiectasis, Recurrent otitis media, Chronic sinusitis, ... ORPHA:244
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Chronic sinusitis, Recurrent otitis media OMIM:619607
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Paralysis, Hypertonia, Myoclonus, Tetraparesis OMIM:203700
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Ataxia, Pneumonia, Tremor, Spastic diplegia, Tetraparesis, Otitis media OMIM:613179
Dpagt1-Cdg
EEG with generalized slow activity, Ataxia, Akinesia, Tremor, Abnormal cerebellum morphology, Ina... ORPHA:86309
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Low-set ears, Periodic paralysis OMIM:170390
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia ORPHA:79330
Igg4-Related Retroperitoneal Fibrosis
Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, Hydrocele testis, Memb... ORPHA:49041
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive spastic paraparesis, Progressive spastic quadriplegia, Progressive gait ataxia, Progr... ORPHA:329308
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Paralysis ORPHA:18
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears, Failure to thrive, Dandy-Walker malformation, ... ORPHA:401973
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Ataxia, Eczema, Inability to walk, Vocal cord paralysis, Hyperkinetic move... OMIM:617799
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Retinal telangiectasia, Tremor, Optic atrophy, Abnormal pyramidal sign, Exudative retinop... OMIM:612199
Igg4-Related Pachymeningitis
Paraparesis ORPHA:449427
Autosomal Recessive Spastic Paraplegia Type 55
Lower limb spasticity, Babinski sign, Poor fine motor coordination, Spastic paraparesis, Spasticity ORPHA:320375
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Hypogonadism, Ataxia, Decreased testicular size OMIM:201100
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Babinski sign, Spastic paraparesis OMIM:500013
Listeriosis
Pericarditis, Osteomyelitis, Ataxia, Pneumonia, Somatic sensory dysfunction, Tremor, Pustule, Per... ORPHA:533
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Oculomotor apraxia, Abnormal myelination ORPHA:67045
Acromegaly
Cerebral palsy, Hypogonadotropic hypogonadism, Dysmenorrhea, Acne, Osteoarthritis, Impotence, Par... ORPHA:963
Kanzaki Disease
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy OMIM:609242
Transketolase Deficiency
Seborrheic dermatitis, Uveitis, Secondary amenorrhea, Conjunctivitis, Hearing impairment ORPHA:488618
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Somatomammotropinoma
Cerebral palsy, Hypogonadotropic hypogonadism, Dysmenorrhea, Osteoarthritis, Impotence, Paresthes... ORPHA:314769
Cinca Syndrome
Retrobulbar optic neuritis, Sensorineural hearing impairment, Uveitis, Inflammatory abnormality o... ORPHA:1451
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... ORPHA:727
Gitelman Syndrome
Hashimoto thyroiditis, Paralysis, Vertigo, Gout, Tubulointerstitial nephritis, Paresthesia, Tinnitus ORPHA:358
Mercury Poisoning
Tremor, Anorexia, Dystonia ORPHA:330021
Pineoblastoma
Paralysis ORPHA:251909
Autosomal Recessive Spastic Paraplegia Type 20
Speech apraxia, Babinski sign, Slurred speech, Spastic dysarthria, Ankle clonus, Spastic parapare... ORPHA:101000
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th... OMIM:614700
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Sensorineural hearing impairment, Unilateral vocal cord paresis, Incomplete partition of the coch... OMIM:617660
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Ataxia, Spastic paraparesis ORPHA:369891
Williams Syndrome
Low-set, posteriorly rotated ears, Ataxia, Involuntary movements, Failure to thrive in infancy, T... ORPHA:904
Mucopolysaccharidosis Type 3
Vocal cord paresis, Mixed hearing impairment, Ataxia, Thickened helices, Abnormality of the middl... ORPHA:581
Lyme Disease
Arthritis, Infectious encephalitis, Paresthesia, Uveitis ORPHA:91546
Norrie Disease
Clonus, Cryptorchidism, Sensorineural hearing impairment, Protruding ear, Abnormal cochlea morpho... ORPHA:649
Pituitary Apoplexy
Impotence, Hypergonadotropic hypogonadism, Oligomenorrhea ORPHA:95613
Chediak-Higashi Syndrome
Ataxia, Decreased nerve conduction velocity, Tremor, Ocular albinism, Macular hypoplasia, Gait di... OMIM:214500
Pudendal Neuralgia
Dyspareunia, Impotence, Paresthesia, Somatic sensory dysfunction ORPHA:60039
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Vertigo, Sensorineural h... ORPHA:728
Igg4-Related Thyroid Disease
Sclerosing cholangitis, Vocal cord paralysis, Hashimoto thyroiditis, Thyroiditis ORPHA:64744
Lambert-Eaton Myasthenic Syndrome
Keratoconjunctivitis sicca, Impotence ORPHA:43393
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Fasciitis, Pericarditis, Skin rash, Orchitis, Vertigo, Peritonitis, Uveitis, Arthritis,... ORPHA:32960
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Scheie Syndrome
Cerebral palsy, Spastic paraparesis ORPHA:93474
Vici Syndrome
Abnormal posturing, Dysphagia OMIM:242840
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Abnormality of the ear, Uveitis... OMIM:186580
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Low-set ears, Macroorchidism ORPHA:8
Oculopharyngodistal Myopathy 1
Ataxia, Facial palsy, Tremor, Sensorineural hearing impairment, Weight loss, Difficulty walking OMIM:164310
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Spastic paraparesis ORPHA:391408
Steinert Myotonic Dystrophy
Hypergonadotropic hypogonadism, Inability to walk, Decreased fertility, Poor fine motor coordinat... ORPHA:273
Argininemia
Progressive spastic quadriplegia, Frequent falls, Spastic gait, Spastic paraparesis OMIM:207800
Combined Oxidative Phosphorylation Defect Type 7
Abnormal pyramidal sign, Ataxia, Spastic paraparesis ORPHA:254930
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ataxia, Hemiparesis, Spastic paraparesis, Upper motor neuron dysfunction ORPHA:395
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Codas Syndrome
Cryptorchidism, Sensorineural hearing impairment, Conductive hearing impairment, Crumpled ear, Vo... OMIM:600373
Lymphoproliferative Syndrome 2
Recurrent pneumonia, EBV encephalitis, Uveitis OMIM:615122
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Short Stature, Developmental Delay, And Congenital Heart Defects
Uveitis OMIM:617044
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Dystonia, Inability to walk, Delayed myelination, Chorea, Athetosis, Hyperkinetic movements, Myoc... ORPHA:404454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Retinal atrophy, Optic atrophy, EEG abnormality, Hypoplasia of the retina, ... OMIM:253280
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Keratoconjunctivitis sicca, Thyroiditis, Uveitis OMIM:617388
Epidermal Nevus Syndrome
Progressive spastic paraparesis, Babinski sign, Hypertonia ORPHA:35125
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Testicular neoplasm, Bilateral cryptorchidism, Primary amenorrhea ORPHA:99429
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Unilateral vocal cord paralysis ORPHA:324540
Incontinentia Pigmenti
Skin rash, Keratitis, Hearing abnormality, Hemiplegia/hemiparesis, Uveitis, Gait disturbance, Spa... ORPHA:464
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Bronchiectasis, Uveitis OMIM:612387
Vitreoretinopathy, Neovascular Inflammatory
Uveitis OMIM:193235
Oligoarticular Juvenile Idiopathic Arthritis
Rheumatoid arthritis, Knee osteoarthritis, Oligoarthritis, Uveitis ORPHA:85410
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Skin rash, Pneumonia, Cheilitis, Uveitis, Olig... ORPHA:125
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Van Esch-O'Driscoll Syndrome
Hypogonadotropic hypogonadism, Unilateral vocal cord paralysis, Protruding ear, Microtia, Spasticity OMIM:301030
Eales Disease
Spastic paraparesis ORPHA:40923
Generalized Pustular Psoriasis
Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma ORPHA:247353
Split Cord Malformation
Paraparesis ORPHA:573278
Schinzel-Giedion Syndrome
Abnormality of the stapes, Streak ovary, Recurrent pneumonia, Vocal cord paralysis, Abnormal coch... ORPHA:798
Degcags Syndrome
Posteriorly rotated ears, Pneumonia, Hearing impairment, Cryptorchidism, Sensorineural hearing im... OMIM:619488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of cerebellar vermis, Optic nerve dysplasia, Cerebellar hemisphere hypoplasia, Cerebella... OMIM:615287
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Hearing impairment OMIM:227650
Esophageal Atresia
Abnormality of the ear, Hypertonia, Esophagitis, Vocal cord paresis, Hearing impairment ORPHA:1199
Feingold Syndrome 1
Vocal cord paralysis, Posteriorly rotated ears, Low-set ears, Hearing impairment OMIM:164280
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Conjunctivitis, Chronic otitis media OMIM:608710
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Lower limb dysmetria, Schwannoma, Protruding ear, Subcutaneous neurofibroma, Spinal neurofibroma ORPHA:363700
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, Hi... ORPHA:85408
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Tubulointerstitial nephritis, Hypo... ORPHA:85450
Monosomy 18Q
Choreoathetosis, Poor coordination, Abnormal myelination ORPHA:1600
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Spastic paraparesis OMIM:619234
Shigellosis
Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivitis, Acut... ORPHA:810
Antiphospholipid Syndrome, Familial
Keratitis, Scleritis, Iritis OMIM:107320
Incontinentia Pigmenti
Keratitis, Spasticity, Maculopapular exanthema, Uveitis OMIM:308300
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Spasti... ORPHA:51
Localized Scleroderma
Fasciitis, Uveitis, Arthritis, Esophagitis, Hashimoto thyroiditis ORPHA:90289
Multiple Endocrine Neoplasia Type 1
Impotence, Decreased male libido, Amenorrhea ORPHA:652
Juvenile Xanthogranuloma
Iritis, Blepharitis, Uveitis ORPHA:158000
Nocardiosis
Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thyroiditis, Endoc... ORPHA:31204
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Low-set, posteriorly rotated ears, Streak ovary, Unilateral cryptorchidism, Bil... ORPHA:1772
Oculodentodigital Dysplasia
Spasticity, Ataxia, Spastic paraparesis ORPHA:2710
Hurler Syndrome
Cerebral palsy, Abnormal pyramidal sign, Spastic paraparesis ORPHA:93473
Leprosy
Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, Testicular mass, Uveitis, ... ORPHA:548
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Cockayne Syndrome Type 3
Unsteady gait, Difficulty walking, Abnormal myelination, Demyelinating peripheral neuropathy, Int... ORPHA:90324
Biotinidase Deficiency
Ataxia, Spastic paraparesis ORPHA:79241
Autoimmune Lymphoproliferative Syndrome
Premature ovarian insufficiency, Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, ... ORPHA:3261
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Retinal dysplasia, Cerebellar dysplasia OMIM:601374
Say-Barber-Miller Syndrome
Ankle clonus, Lower limb hypertonia, Babinski sign, Spastic paraparesis ORPHA:3132
Amoebic Keratitis
Scleritis, Anterior uveitis ORPHA:67043
Stickler Syndrome
Hemiplegia/hemiparesis, Sensorineural hearing impairment, Osteoarthritis, Uveitis, Chronic otitis... ORPHA:828
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Jerky head movements ORPHA:369837
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Eczema, Keratitis, Cryptorchidism, Cheilitis, Uveitis, Scleritis, Conjunctivitis, M... ORPHA:2273
Hepatoerythropoietic Porphyria
Recurrent bacterial skin infections, Keratoconjunctivitis, Scleritis, Seborrhoeic blepharitis, Pa... ORPHA:95159
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Scleritis, Tubuloint... ORPHA:91500
Williams-Beuren Syndrome
Incoordination, Sensorineural hearing impairment, Poor coordination, Vocal cord paralysis, Large ... OMIM:194050
Pauci-Immune Glomerulonephritis
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter... ORPHA:93126
Cystic Fibrosis
Male infertility, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis, Pancreatitis OMIM:219700
Noonan Syndrome 1
Male infertility, Cryptorchidism, Sensorineural hearing impairment, Synovitis, Hypogonadism, Low-... OMIM:163950
Marburg Hemorrhagic Fever
Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Dysesthesia, Uveitis, Arthritis, Panc... ORPHA:99826
Exstrophy-Epispadias Complex
Cryptorchidism, Female sexual dysfunction, Male sexual dysfunction ORPHA:322
Paroxysmal Nocturnal Hemoglobinuria
Impotence ORPHA:447
Hallermann-Streiff Syndrome
Cryptorchidism, Uveitis ORPHA:2108
Primary Sclerosing Cholangitis
Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis, Pancreatitis ORPHA:171
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Keratoconjunctivitis, Scleritis, Seborrhoeic blepharitis, Pa... ORPHA:79277
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine OMIM:181000
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Uveitis OMIM:221900
Leptospirosis
Pericarditis, Skin rash, Hepatitis, Uveitis, Optic neuritis ORPHA:509
Sarcoidosis
Maculopapular exanthema, Erythema nodosum, Bronchiectasis, Uveitis, Tubulointerstitial nephritis,... ORPHA:797
Microphthalmia, Syndromic 2
Spastic paraparesis OMIM:300166
Retinoblastoma
Uveitis ORPHA:790
Orofaciodigital Syndrome Type 14
Abnormal myelination ORPHA:434179

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 Sptbn4

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 Sptbn4.

No publications found that use IMPC mice or data for Sptbn4.

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
Sptbn4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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