Disease #00729 (SYM (symphalangism, proximal (SYM)))

Official abbreviation SYM
Name symphalangism, proximal (SYM)
OMIM ID -
Inheritance -
Individuals reported having this disease 12
Phenotype entries for this disease 11
Associated with 2 genes GDF5, NOG
Associated tissues -
Disease features -
Remarks -


Individuals

12 entries on 1 page. Showing entries 1 - 12.
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00229489 (Fam1) II:1 PubMed: Mangino 2002 Father of III:1 M - Italy - - 0 - - SYM proximal symphalangism, thoraco-lumbar scoliosis NOG NOG 1 1 LOVD
00229490 (Fam1) III:1 PubMed: Mangino 2002 Sun of II:1 M - Italy - - 0 - - SYM proximal symphalangism NOG NOG 1 1 LOVD
00229491 patient_007 PubMed: Gong 1999 - - - - - - 0 - - SYM proximal symphalangism NOG NOG 1 1 LOVD
00229500 Patient_001 PubMed: Kosaki 2004 - F - Japan Japanese - 0 - - SYM proximal symphalangism NOG NOG 1 1 LOVD
00229504 case_002 PubMed: Takahashi 2001 - - - - - - 0 - - SYM proximal symphalangism NOG NOG 1 1 LOVD
00229507 case_001 PubMed: Takahashi 2001 - - - - - - 0 - - SYM proximal symphalangism NOG NOG 1 1 LOVD
00229511 family_005 PubMed: Ensink 1999, PubMed: Cremers 1985, PubMed: Gong 1999 - - - - - - 0 - - SYM proximal symphalangism NOG NOG 1 1 LOVD
00229518 Patient_001 PubMed: Emery 2009 - F - - - - 0 - - SYM proximal symphalangism NOG NOG 1 1 LOVD
00229520 family_006 PubMed: Gong 1999 - - - - - - 0 - - SYM proximal symphalangism NOG NOG 1 1 LOVD
00229521 family_004 PubMed: Ensink 1999, PubMed: Gong 1999 - - - - - - 0 - - SYM proximal symphalangism NOG NOG 2 1 LOVD
00229522 family_001 PubMed: Polymeropoulos 1995, PubMed: Gong 1999 - - - - - - 0 - - SYM - NOG NOG 1 1 LOVD
00229524 family_003 PubMed: Gong 1999 - - - - - - 0 - - SYM proximal symphalangism NOG NOG 1 1 LOVD
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