Disease #05221

Official abbreviation TKS
Name Takenouchi-Kosaki syndrome (TKS)
OMIM ID 616737
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene CDC42
Associated tissues -
Disease features -
Remarks -


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00100300 - PubMed: Takenouchi 2015, Journal: Takenouchi 2015 2-generation family, 1 affected, unaffected non-carrier parents F no Japan Japanese; Iranian - 0 - - TKS see paper; ..., macrothrombocytopenia, developmental delay, distinctive facial features CDC42 CDC42 1 1 Johan den Dunnen
00100301 - PubMed: Takenouchi 2016, Journal: Takenouchi 2016 2-generation family, 1 affected, unaffected non-carrier parents F no Japan - - 0 - - TKS see paper; ..., macrothrombocytopenia, developmental delay, distinctive facial features CDC42 CDC42 1 1 Johan den Dunnen
00100303 - Takenouchi, IRDiRC 2017 2-generation family, 1 affected, unaffected non-carrier parents - no Japan - - 0 - - TKS - CDC42 CDC42 1 1 Johan den Dunnen
00100304 - Takenouchi, IRDiRC 2017 2-generation family, 1 affected, unaffected non-carrier parents - no United States - - 0 - - TKS - CDC42 CDC42 1 1 Johan den Dunnen
00100305 - Takenouchi, IRDiRC 2017 2-generation family, 1 affected, unaffected non-carrier parents - no United States - - 0 - - TKS - CDC42 CDC42 1 1 Johan den Dunnen
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