All individuals with variants in gene CRYM

11 entries on 1 page. Showing entries 1 - 11.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00013456 - - - M - Germany - - - yes (pedigree) - FAP-1 additional phenotype data available; colorectal phenotype classical, multiple polyps entire colon; no colon cancer ; colectomy with Ileostoma 27y 1 1 Stefan Aretz
00013457 - - - F - Germany - - - yes (pedigree) - FAP-1 additional phenotype data available; colorectal phenotype classical, ? nr polyps; colon cancer 27y 1 1 Stefan Aretz
00013458 - - - M - Germany - - - yes (pedigree) - FAP-1 additional phenotype data available; colorectal phenotype classical, >100 polyps entire colon; no colon cancer ; colectomy 28y IPAA; esophago-gastro-duodenoscopy age 28y; duodenal polyps (HP:0004783) 1 1 Stefan Aretz
00033915 - PubMed: Abe 2003 - - - Japan - - 0 - - DFNA no vestibular, visual, renal, or muscular involvement 1 1 Johan den Dunnen
00033916 - PubMed: Abe 2003 mother of 12471561-Fam1d - - Japan - - 0 - - DFNA no vestibular, visual, renal, or muscular involvement 1 1 Johan den Dunnen
00033917 - PubMed: Abe 2003 daugther of 12471561-Fam1m - - Japan - - 0 - - DFNA no vestibular, visual, renal, or muscular involvement 1 1 Johan den Dunnen
00033918 - - - - - Japan - - 0 - - DFNA nonsyndromic deafness 1 90 Johan den Dunnen
00033919 - - - - - Japan - - 0 - - DFNA nonsyndromic deafness 1 3 Johan den Dunnen
00033920 - - - - - Japan - - 0 - - DFNA nonsyndromic deafness 1 84 Johan den Dunnen
00033921 - - - - - Japan - - 0 - - DFNA nonsyndromic deafness 1 94 Johan den Dunnen
00050442 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? microcephaly, intellectual disability 1 1 Johan den Dunnen
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