Disease #00101

Official abbreviation TMD
Name dystrophy, muscular, tibial (TMD)
OMIM ID 600334
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 1 gene TTN
Associated tissues -
Disease features -
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Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00057951 - - 78 patents 12 unrelated families - ? Finland - - 0 - - TMD TTN TTN 2 78 Johan den Dunnen
00057952 - - 4-generation family, 5 affecteds (1 sub-clinical) - - Belgium - >52y 0 - - TMD TTN TTN 1 5 Johan den Dunnen
00057987 - PubMed: Hackman 2008, PubMed: Evila 2014 2-generation family, affected mother (Pat5A) and child (Pat5B) - no France - - 0 - - TMD TTN TTN 2 1 Johan den Dunnen
00057988 - PubMed: Hackman 2008 3-generation family, 7 affecteds - no Spain - - 0 - - TMD TTN TTN 1 7 Johan den Dunnen
00057989 - PubMed: Hackman 2008 3 affected sisters - no Spain - - 0 - - TMD TTN TTN 1 2 Johan den Dunnen
00057990 - PubMed: Hackman 2008 3-generation family, 8 affecteds - no France - - 0 - - TMD TTN TTN 1 8 Johan den Dunnen
00058359 - - 3 affecteds 2q31 linked TMD family - ? France - - 0 - - TMD TTN TTN 1 3 Johan den Dunnen
00058412 - PubMed: Evila 2014 - F - Spain - - 0 - - TMD TTN TTN 2 1 Claire Chauveau
00058414 - PubMed: Evila 2014 2-generation family, affected child of mother (18948003-FamC) - no France - - 0 - - TMD TTN TTN 2 1 Claire Chauveau
00058427 - PubMed: Pollazzon 2010 3-generation family, 8 affecteds (6F, 2M) - no Italy - - 0 - - TMD TTN TTN 2 8 Claire Chauveau
00058431 - PubMed: Evila 2014 - F ? Portugal - - 0 - - TMD TTN TTN 2 1 Johan den Dunnen
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