Disease #00246 (CTRCT-13 (cataract, type 13, with adult phenotype (CTRCT-13)), OMIM:116700)

Official abbreviation CTRCT-13
Name cataract, type 13, with adult phenotype (CTRCT-13)
OMIM ID 116700
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 10
Phenotype entries for this disease 9
Associated with 1 gene GCNT2
Associated tissues -
Disease features -
Remarks -


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00003043 - PubMed: Yu 2001 2-generation family, 2 affecteds F no Taiwan - - - - - BG-i, CTRCT-13 blood group i, cataract, congenital GCNT2 GCNT2 2 1 Johan den Dunnen
00003044 - PubMed: Yu 2001 2-generation family, 2 affecteds F no Taiwan - - - - - BG-i, CTRCT-13 blood group i, cataract, congenital GCNT2 GCNT2 2 1 Johan den Dunnen
00003045 - PubMed: Yu 2001 3-generation family, 2 affecteds F no Taiwan - - - - - BG-i, CTRCT-13 blood group i, cataract, congenital GCNT2 GCNT2 1 1 Johan den Dunnen
00003046 - PubMed: Yu 2001 3-generation family, 2 affecteds M no Taiwan - - - - - BG-i, CTRCT-13 blood group i, cataract, congenital GCNT2 GCNT2 1 1 Johan den Dunnen
00003047 - PubMed: Yu 2001 3-generation family, 1 affected F yes Taiwan - - - - - BG-i, CTRCT-13 blood group i, cataract, congenital GCNT2 GCNT2 1 1 Johan den Dunnen
00003054 - PubMed: Inaba 2003 3-generation family, 3 affecteds, unaffected carrier parents and children - no Japan - - 0 - - BG-i, CTRCT-13 - GCNT2 GCNT2 3 3 Johan den Dunnen
00003073 - PubMed: Pras 2004 6-generation family, 5 affecteds (4F, 1M) - yes Israel Arab - 0 - - BG-i, CTRCT-13 <1m bilateral leukocoria (HPO:0000555) GCNT2 GCNT2 1 5 Johan den Dunnen
00003075 - PubMed: Pras 2004 5-generation family, 1 affected M yes Israel - - 0 - - BG-i, CTRCT-13 - GCNT2 GCNT2 1 1 Johan den Dunnen
00003079 - - 3-generation family, 4 affecteds (3F, 1M) - yes Israel Arab - 0 - - BG-i, CTRCT-13 - GCNT2 GCNT2 1 4 Johan den Dunnen
00003081 - - 5-generaion family, 3 affecteds (2F, 1M) - yes Israel Arab - 0 - - BG-i, CTRCT-13 - GCNT2 GCNT2 1 3 Johan den Dunnen
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