Disease #04242

Official abbreviation FRDA
Name Friedreich ataxia (FRDA)
OMIM ID -
Inheritance -
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 1 gene FXN
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Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00037733 - PubMed: Campuzano 1996 family, 2 affected sibs - - France - - 0 - - FRDA 8596916-Fam1 FXN FXN 2 2 Johan den Dunnen
00037734 - PubMed: Campuzano 1996 family, 1 affected - - Spain - - 0 - - FRDA 8596916-Fam2 FXN FXN 2 1 Johan den Dunnen
00037735 - PubMed: Campuzano 1996 family, 2 affected sibs - - Italy - - 0 - - FRDA 8596916-Fam3a FXN FXN 2 2 Johan den Dunnen
00037736 - PubMed: Campuzano 1996 family, 2 affected sibs - - Italy - - 0 - - FRDA 8596917-Fam3b FXN FXN 2 2 Johan den Dunnen
00037737 - PubMed: Campuzano 1996 family, 1 affected - - Italy - - 0 - - FRDA 8596918-Fam3c FXN FXN 2 1 Johan den Dunnen
00037739 - PubMed: Campuzano 1996 72 unrelated patients - - ? (unknown) - - 0 - - FRDA 08596916-dis FXN FXN 2 72 Johan den Dunnen
00037740 - - several unaffected carriers in family (both alleles) F - Turkey Turkmenistan >24y 0 - - FRDA ? FXN FXN 2 1 Nazli Basak
00037741 - PubMed: Campuzano 1996 2-generation family, 3 affecteds - - ? (unknown) - - 0 - - FRDA 08596916-Fam4 FXN FXN 2 3 Johan den Dunnen
00037742 - PubMed: Campuzano 1996 2-generation family, 2 affecteds - - ? (unknown) - - 0 - - FRDA 08596916-Fam5 FXN FXN 2 2 Johan den Dunnen
00046847 - PubMed: Campuzano 1996, Journal: Campuzano 1996 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/sister M no United States Acadian, Cajun - 0 - - FRDA - FXN FXN 2 1 Johan den Dunnen
00060288 - PubMed: Faruq 2014, Journal: Faruq 2014 3-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents/sibs F;M yes India - - 0 - - FRDA Friedreich ataxia-like, see paper; ..., SACS SACS 1 3 Johan den Dunnen
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