Phenotypes for disease #05356 (ataxia (ataxia))

180 entries on 2 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     
Diagnosis/Initial     
Diagnosis/Definite     
Phenotype details     
Inheritance     
Age/Examination     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000117438 ataxia - - Unknown - - - - Johan den Dunnen 00144704
0000117443 ataxia - - Unknown - - - - Bernard Brais 00144709
0000117444 ataxia - - Unknown - - - - Bernard Brais 00144710
0000117445 ataxia - - Unknown - - - - Bernard Brais 00144711
0000117446 ataxia - - Unknown - - - - Bernard Brais 00144712
0000117447 ataxia - - Unknown - - - - Bernard Brais 00144713
0000117448 ataxia - - Unknown - - - - Bernard Brais 00144714
0000117472 ataxia - - Familial, autosomal recessive - - - - Johan den Dunnen 00144738
0000117478 ataxia - - Isolated (sporadic) - - - - Johan den Dunnen 00144744
0000117480 ataxia - - Unknown - - - - Bernard Brais 00144746
0000117490 ataxia - early onset Unknown - - - - Bernard Brais 00144756
0000117503 ataxia - - Unknown - - - - Bernard Brais 00144769
0000117566 ataxia - - Unknown - - - - Bernard Brais 00144832
0000117587 ataxia - - Unknown - - - - Bernard Brais 00144853
0000117592 ataxia - - Unknown - - - - Bernard Brais 00144858
0000117610 ataxia - - Unknown - - - - Bernard Brais 00144876
0000122514 SCID Ataxia T-B-NK+SCID Ataxia Familial, autosomal recessive - - - - Sinem Firtina 00150112
0000135706 Hypotonia - Hypotonia, Global Developmental Delay, microcephaly, ataxia Familial, autosomal recessive - 00y01m? - - Inge Meijer 00170845
0000135718 - - Cerebellar ataxia, Gait and Reading difficulties, Dysarthria, LL & UL ataxia, Mild cerebellar atrophy Familial, autosomal recessive - 39y - - Inge Meijer 00168055
0000138574 Cerebellar Ataxia - Mild Cerebellar atrophy, Dysarthria, UL & LL ataxia Familial, autosomal recessive - 36y - - Inge Meijer 00168056
0000138575 Cerebellar Ataxia - Mild cerebellar atrophy, Dysarthria, UL & LL ataxia Familial, autosomal recessive - 28y - - Inge Meijer 00168057
0000138576 Cerebellar Ataxia - Mild cerebellar atrophy, Dysarthria, UL & LL ataxia Familial, autosomal recessive - 23y - - Inge Meijer 00168058
0000138577 Cerebellar Ataxia - Reading difficulty, dysarthria, UL & LL ataxia, Familial, autosomal recessive - 34y - - Inge Meijer 00168059
0000138578 Spastic Ataxia - Saccadic pursuit, UL & LL ataxia , LL spasticity, Mild executive dysfunction Familial, autosomal recessive - 29y - - Inge Meijer 00168060
0000141837 Ataxia and Neuropathy - Developpemental delay, Mild ID, Cerebellar atrophy Familial, autosomal recessive - <01y - - Inge Meijer 00177026
0000141838 Hypotonia - Delayed gross motor skills, Familial, autosomal recessive 02y <01y - - Inge Meijer 00177027
0000143395 ataxia - see paper; ..., HP:0002497, HP:0012736, HP:0001256 Familial, autosomal recessive 23y - - - Rafał Płoski 00181224
0000155694 ataxia Autosomal recessive cerebellar ataxia type 1 - Familial, autosomal recessive 70y 30y - - Carmen Palma 00207916
0000156928 Ataxia - 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status, no nystagmus, dysarthria, ataxia Unknown - - - - LOVD 00208232
0000156942 Progressive Cerebellar Ataxia - 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status Unknown 85y - - - LOVD 00208349
0000156943 Progressive Cerebellar Ataxia - 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status Unknown 78y - - - LOVD 00208350
0000156944 Progressive Cerebellar Ataxia; Tension-type headache - 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status Unknown 24y - - - LOVD 00208351
0000157022 Progressive Cerebellar Ataxia - 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 30y, nystagmus, dysarthria, ataxia Unknown 47y - - - LOVD 00208422
0000157028 Progressive Cerebellar Ataxia - 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 40y, no nystagmus, dysarthria, no ataxia Unknown - - - - LOVD 00208243
0000157030 Cerebellar Ataxia - 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, dysarthria, ataxia Unknown 42y - - - LOVD 00208428
0000157050 Progressive Cerebellar Ataxia - 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 24y, 1st severe attack signs mild coma; PermCer status 25y, no nystagmus, dysarthria, no ataxia Unknown - - - - LOVD 00208245
0000157060 Ataxia; Cerebellar Ataxia - 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, no dysarthria, ataxia Unknown 78y - - - LOVD 00208456
0000157069 Progressive Cerebellar Ataxia - 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 35y, 1st severe attack signs mild coma; PermCer status 30y, no nystagmus, dysarthria, no ataxia Unknown - - - - LOVD 00208248
0000157070 Progressive Cerebellar Ataxia - 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 27y, no nystagmus, dysarthria, no ataxia Unknown - - - - LOVD 00208249
0000157072 Progressive Cerebellar Ataxia - 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 33y, no nystagmus, dysarthria, no ataxia Unknown - - - - LOVD 00208251
0000157073 Progressive Cerebellar Ataxia - 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 34y, no nystagmus, dysarthria, no ataxia, Brain MRI atrophy of the cerebellum Unknown - - - - LOVD 00208252
0000157075 Progressive Cerebellar Ataxia - 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 50y, no nystagmus, dysarthria, no ataxia Unknown - - - - LOVD 00208253
0000157076 Progressive Cerebellar Ataxia - 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 50y, no nystagmus, dysarthria, no ataxia Unknown - - - - LOVD 00208254
0000157121 Mental Retardation; Progressive Cerebellar Ataxia - 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence Unknown - - - - LOVD 00208295
0000167950 - ATLD-1 - Familial, autosomal recessive - - - - Johan den Dunnen 00222751
0000167951 - ATLD-1 - Familial, autosomal recessive - - - - Johan den Dunnen 00222749
0000167952 - ATLD-1 - Familial, autosomal recessive - - - - Johan den Dunnen 00222750
0000172721 cerebellar ataxia CDG1A neuropathy Familial, autosomal recessive - 10y - - Erik-Jan Kamsteeg 00228888
0000188536 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 69y 49y unsteadiness - Johan den Dunnen 00249663
0000188537 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential Familial, autosomal recessive 65y 50y unsteadiness, pain - Johan den Dunnen 00249664
0000188538 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) Familial, autosomal recessive 63y 48y unsteadiness in the dark, numb feet, pain - Johan den Dunnen 00249665
0000188539 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735) Familial, autosomal recessive 78y 60y unsteadiness - Johan den Dunnen 00249666
0000188540 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (urinary urgency and retention); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 69y 58y unsteadiness - Johan den Dunnen 00249667
0000188541 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 80y 55y Unsteadiness, pain - Johan den Dunnen 00249668
0000188542 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 78y 55y unsteadiness - Johan den Dunnen 00249669
0000188543 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (fecal incontinence); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs Familial, autosomal recessive 77y 66y unsteadiness - Johan den Dunnen 00249670
0000188544 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 65y 59y unsteadiness, numb feet - Johan den Dunnen 00249671
0000188545 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); no cerebellar atrophy (-HP:0001272) Familial, autosomal recessive 54y 53y unsteadiness - Johan den Dunnen 00249672
0000188546 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 62y 60y unsteadiness, numb feet - Johan den Dunnen 00249673
0000188547 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 77y 67y unsteadiness, falls - Johan den Dunnen 00249674
0000188548 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 74y 69y unsteadiness in the dark, pain - Johan den Dunnen 00249675
0000188549 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 70y 40y numb hands, later unsteadiness, oscillopsia - Johan den Dunnen 00249676
0000188550 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 50y 45y dizziness, later unsteadiness and falls - Johan den Dunnen 00249677
0000188551 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 48y 43y dizziness, later unsteadiness and falls - Johan den Dunnen 00249678
0000188552 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 58y - unsteadiness - Johan den Dunnen 00249679
0000188553 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (abnormal pupil reactivity); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 52y - unsteadiness - Johan den Dunnen 00249680
0000188554 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (erectile dysfunction); cough (HP:0012735); absent; reduced sensory action potentials lower limbs; normal compound motor action potential; Familial, autosomal recessive 68y 45y unsteadiness in the dark, numb hands - Johan den Dunnen 00249681
0000188555 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) Familial, autosomal recessive 64y 45y unsteadiness - Johan den Dunnen 00249682
0000188556 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential Familial, autosomal recessive 57y 55y numb feet - Johan den Dunnen 00249683
0000188557 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential Familial, autosomal recessive 57y 50y numb feet - Johan den Dunnen 00249684
0000188558 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 64y 45y unsteadiness - Johan den Dunnen 00249685
0000188559 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (erectile dysfunction); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 72y 65y unsteadiness - Johan den Dunnen 00249686
0000188560 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (constipation, urinary incontinence, impaired regulation of blood pressure); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 65y 48y unsteadiness, numb hands - Johan den Dunnen 00249687
0000188561 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs Familial, autosomal recessive 62y 45y unsteadiness in the dark, numb feet - Johan den Dunnen 00249688
0000188562 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary retention); cough (HP:0012735); absent; absent sensory action potentials lower limbs; compound motor action potential patchy reduction of conduction velocities; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 72y 62y unsteadiness, numb feet - Johan den Dunnen 00249689
0000188563 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary urgency); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 74y 54y unsteadiness, pain - Johan den Dunnen 00249690
0000188564 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (constipation); no cough (-HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 55y 49y unsteadiness, numbness - Johan den Dunnen 00249691
0000188565 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 62y 48y numb hands - Johan den Dunnen 00249692
0000188566 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) Familial, autosomal recessive 82y 60y numb feet - Johan den Dunnen 00249693
0000188567 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 74y 59y unsteadiness - Johan den Dunnen 00249694
0000188568 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 72y 69y unsteadiness - Johan den Dunnen 00249695
0000188569 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735) Familial, autosomal recessive 55y 45y numb feet, dysesthesia - Johan den Dunnen 00249696
0000188570 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive - - - - Johan den Dunnen 00249697
0000188571 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary dysfunction); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) Familial, autosomal recessive 65y 45y numbness - Johan den Dunnen 00249698
0000188572 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary urgency, gastro-intestinal dysmotility); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 76y 65y unsteadiness in the dark, pain - Johan den Dunnen 00249699
0000188573 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) Familial, autosomal recessive 71y 65y unsteadiness in the dark - Johan den Dunnen 00249700
0000188574 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 73y 69y unsteadiness, vertigo - Johan den Dunnen 00249701
0000188575 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential Familial, autosomal recessive 63y 55y Unsteadiness, numb hands - Johan den Dunnen 00249702
0000188576 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 60y 50y unsteadiness, slurred speech - Johan den Dunnen 00249703
0000188577 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; reduced sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 55y 45y unsteadiness in the dark - Johan den Dunnen 00249704
0000188578 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential Familial, autosomal recessive 65y 50y unsteadiness in the dark - Johan den Dunnen 00249705
0000188579 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 72y - - - Johan den Dunnen 00249706
0000188580 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential Familial, autosomal recessive 47y 40y unsteadiness - Johan den Dunnen 00249707
0000188581 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 76y 70y unsteadiness - Johan den Dunnen 00249708
0000188582 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 73y 69y unsteadiness - Johan den Dunnen 00249709
0000188583 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 40y 35y plodding/flatfooted, speech problems age 35 - Johan den Dunnen 00249710
0000188584 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 38y 35y unsteadiness, vertigo and speech - Johan den Dunnen 00249711
0000188585 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 54y 53y early oscillopsia, unsteadiness, numbness - Johan den Dunnen 00249712
0000188586 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs Familial, autosomal recessive 67y 60y unsteadiness - Johan den Dunnen 00249713
0000188587 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (constipation, xeropthalmia); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) Familial, autosomal recessive 64y 54y unsteadiness, dysarthria, numbness - Johan den Dunnen 00249714
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