All individuals with variants in gene RFC1

90 entries on 1 page. Showing entries 1 - 90.
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00248186 - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - cancer, breast 32y ductal breast cancer, subtype HER-2 1 1 Zdenek Kleibl
00249663 Fam1-1 PubMed: Cortese 2019 2-generation family, 3 affected (3M), unaffected heterozygous carrier parents M - - - - - - - ataxia 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) 2 3 Johan den Dunnen
00249664 Fam1-2 PubMed: Cortese 2019 - M - - - - - - - ataxia 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 2 1 Johan den Dunnen
00249665 Fam1-3 PubMed: Cortese 2019 - M - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249666 Fam2-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735) 2 2 Johan den Dunnen
00249667 Fam2-2 PubMed: Cortese 2019 - F - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249668 Fam3-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - - - - - - - ataxia 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) 1 2 Johan den Dunnen
00249669 Fam3-2 PubMed: Cortese 2019 - F - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249670 Fam4-2 PubMed: Cortese 2019 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - - - - - - - ataxia 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 2 2 Johan den Dunnen
00249671 Fam5a-1 PubMed: Cortese 2019 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents M - - - - - - - ataxia 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) 1 3 Johan den Dunnen
00249672 Fam5a-2 PubMed: Cortese 2019 - F - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249673 Fam5b-2 PubMed: Cortese 2019 - M - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249674 Fam6a-1 PubMed: Cortese 2019 3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F - - - - - - - ataxia 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) 2 3 Johan den Dunnen
00249675 Fam6a-2 PubMed: Cortese 2019 - F - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249676 Fam6b-1 PubMed: Cortese 2019 - M - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249677 Fam7-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F yes - - - - - - ataxia 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) 2 2 Johan den Dunnen
00249678 Fam7-2 PubMed: Cortese 2019 - M yes - - - - - - ataxia 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) 1 1 Johan den Dunnen
00249679 Fam8-2 PubMed: Cortese 2019 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents F - - - - - - - ataxia 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) 1 2 Johan den Dunnen
00249680 Fam8-3 PubMed: Cortese 2019 - F - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249681 Fam9-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - - - - - - - ataxia 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; 2 2 Johan den Dunnen
00249682 Fam9-2 PubMed: Cortese 2019 - F - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249683 Fam10-2 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - - - - - - - ataxia 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 2 2 Johan den Dunnen
00249684 Fam10-1 PubMed: Cortese 2019 - M - - - - - - - ataxia 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 1 1 Johan den Dunnen
00249685 Fam11-2 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - - - - - - - ataxia 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) 2 2 Johan den Dunnen
00249686 s1 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249687 s2 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249688 s3 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia 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 2 1 Johan den Dunnen
00249689 s4 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249690 s5 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249691 s6 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249692 s7 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249693 s8 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249694 s9 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249695 s10 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia 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) 1 1 Johan den Dunnen
00249696 s11 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735) 2 1 Johan den Dunnen
00249697 s12 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249698 s13 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249699 s14 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249700 s15 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249701 s16 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia 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) 2 1 Johan den Dunnen
00249702 S17 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia 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 1 1 Johan den Dunnen
00249703 S18 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia 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) 1 1 Johan den Dunnen
00249704 S19 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia 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) 1 1 Johan den Dunnen
00249705 s20 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia 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 1 1 Johan den Dunnen
00249706 s21 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia 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) 1 1 Johan den Dunnen
00249707 s22 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia 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 1 1 Johan den Dunnen
00249708 s23 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia 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) 1 1 Johan den Dunnen
00249709 s24 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia 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) 1 1 Johan den Dunnen
00249710 s25 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia 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) 1 1 Johan den Dunnen
00249711 s26 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia 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) 1 1 Johan den Dunnen
00249712 s27 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia 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) 1 1 Johan den Dunnen
00249713 s28 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia 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 1 1 Johan den Dunnen
00249714 s29 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia 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) 1 1 Johan den Dunnen
00249715 s30 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia 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 1 1 Johan den Dunnen
00249716 s31 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735) 1 1 Johan den Dunnen
00249717 s32 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (abnormal blood pressure control, abnormal bowel motility); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 1 1 Johan den Dunnen
00249718 s33 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia peripheral neuropathy (HP:0009830); no 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; no cerebellar atrophy (-HP:0001272) 1 1 Johan den Dunnen
00249719 control PubMed: Cortese 2019 analysis 608 normal chromosome F;M - - - - - - - Healthy/Control - 1 79 Johan den Dunnen
00249720 control PubMed: Cortese 2019 analysis 608 normal chromosome F;M - - - - - - - Healthy/Control - 1 48 Johan den Dunnen
00249721 control PubMed: Cortese 2019 analysis 608 normal chromosome F;M - - - - - - - Healthy/Control - 1 4 Johan den Dunnen
00249724 CANVAS1 PubMed: Rafehi 2019 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents F - - Europe - - - - ataxia - 1 2 Johan den Dunnen
00249725 CANVAS2 PubMed: Rafehi 2019 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - - Europe - - - - ataxia - 1 2 Johan den Dunnen
00249726 CANVAS3 PubMed: Rafehi 2019 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents F - Cyprus Greece - - - - ataxia - 1 2 Johan den Dunnen
00249727 CANVAS4 PubMed: Rafehi 2019 2-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents F;M - - - - - - - ataxia - 1 4 Johan den Dunnen
00249728 CANVAS5 PubMed: Rafehi 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F;M - Lithuania;Latvia - - - - - ataxia - 1 2 Johan den Dunnen
00249729 CANVAS6 PubMed: Rafehi 2019 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - - Europe - - - - ataxia - 1 1 Johan den Dunnen
00249730 CANVAS7 PubMed: Rafehi 2019 - M - Australia Europe; Maori - - - - ataxia - 1 1 Johan den Dunnen
00249731 CANVAS8 PubMed: Rafehi 2019 - F - - Europe - - - - ataxia - 1 1 Johan den Dunnen
00249732 CANVAS9 PubMed: Rafehi 2019 2-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents F;M - Lebanon - - - - - ataxia - 1 4 Johan den Dunnen
00249733 CANVAS10 PubMed: Rafehi 2019 - M - - Europe - - - - ataxia - 1 1 Johan den Dunnen
00249735 CANVAS12 PubMed: Rafehi 2019 - M - Turkey - - - - - ataxia - 1 1 Johan den Dunnen
00249737 CANVAS14 PubMed: Rafehi 2019 - M - - Europe - - - - ataxia - 1 1 Johan den Dunnen
00249738 CANVAS16 PubMed: Rafehi 2019 - F - - Europe - - - - ataxia - 1 1 Johan den Dunnen
00249740 CANVAS18 PubMed: Rafehi 2019 - F - Australia Europe; Maori - - - - ataxia - 1 1 Johan den Dunnen
00249742 CANVAS20 PubMed: Rafehi 2019 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F;M - Spain - - - - - ataxia - 1 2 Johan den Dunnen
00249743 CANVAS21 PubMed: Rafehi 2019 - M - India - - - - - ataxia - 1 1 Johan den Dunnen
00249744 CANVAS22 PubMed: Rafehi 2019 - M - Hungary - - - - - ataxia - 1 1 Johan den Dunnen
00249745 CANVAS23 PubMed: Rafehi 2019 - - - - - - - - - ataxia - 1 1 Johan den Dunnen
00334298 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334307 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334324 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334368 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334535 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334548 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334853 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334860 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00335043 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00392911 P06 PubMed: Bergant 2021 - - - Italy - - - - - retinal disease cerebellar ataxia, neuropathy, vestibular areflexia, nystagmus, asymmetric lower limb distal muscle atrophy and weakness, tremor, mild dysdiadochokinesia, diffuse reduced touch sensibility over trunk and limbs and reduced sense of vibration 1 1 LOVD
00428061 patient PubMed: Schoeberl 2022 2-generation family, 1 affected, unaffected parents M - Germany - - - - - ALS progressive painless weakness both hands; generalized polytopic muscle fasciculations, muscle paresis finger adduction/abduction, finger extension, thumb opposition, wrist extension/flexion and hip flexion; split hand sign both sides; brisk muscle reflexes left upper limb with decreased ankle jerks bilaterally; no sensory/proprioceptive deficits, no ataxia/vestibulopathy; EMG degenerative motor neuron disease; bilaterally absent sural/superficial peroneal nerve potentials and sensory evoked potentials tibial nerves; vestibular testing by inner ear calorics/video-assisted head-impulse-test isolated bilateral presbyvestibulopathy low-frequency range 1 1 Johan den Dunnen
00450514 F051.3 Journal: Steyaert 2024 - - - - - - - - - ataxia - 2 1 Johan den Dunnen
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