Disease #03298 (Hypermanganesemia with dystonia, polycythemia and cirrhosis, OMIM:613280)

Official abbreviation -
Name Hypermanganesemia with dystonia, polycythemia and cirrhosis
OMIM ID 613280
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 15
Phenotype entries for this disease 15
Associated with 1 gene SLC30A10
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Disease features -
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Individuals

15 entries on 1 page. Showing entries 1 - 15.
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00107794 - PubMed: Tuschl 2012 Age at presentation: 2y F yes Yemen Arabic - 0 - - Hypermanganesemia with dystonia, polycythemia and cirrhosis dystonia; Hypermanganesemia SLC30A10 SLC30A10 1 1 Johan den Dunnen
00107795 - PubMed: Tuschl 2012 Age at presentation: 2y F yes Yemen Arabic - 0 - - Hypermanganesemia with dystonia, polycythemia and cirrhosis dystonia; Hypermanganesemia SLC30A10 SLC30A10 1 1 Johan den Dunnen
00107796 - PubMed: Tuschl 2012 Age at presentation: 2y F yes Yemen Arabic - 0 - - Hypermanganesemia with dystonia, polycythemia and cirrhosis dystonia; Hypermanganesemia SLC30A10 SLC30A10 1 1 Johan den Dunnen
00107797 - PubMed: Brna 2011; PubMed: Sahni 2007 Age at presentation: 4y F no Canada Arcadian - 0 - - Hypermanganesemia with dystonia, polycythemia and cirrhosis dystonia; Hypermanganesemia SLC30A10 SLC30A10 1 1 Johan den Dunnen
00107798 - PubMed: Tuschl 2008 Age at presentation: 2y, died at 18y because of complications of cirrhosis M yes United Arab Emirates Arabic - 0 - - Hypermanganesemia with dystonia, polycythemia and cirrhosis dystonia, hepatomegaly, hepatic cirrhosis; Hypermanganesemia SLC30A10 SLC30A10 1 1 Johan den Dunnen
00107799 - PubMed: Tuschl 2012 Age at presentation: 11y F yes United Arab Emirates Arabic - 0 - - Hypermanganesemia with dystonia, polycythemia and cirrhosis dystonia, hepatomegaly, hepatic cirrhosis; Hypermanganesemia SLC30A10 SLC30A10 1 1 Johan den Dunnen
00107800 - PubMed: Gospe 2000 Age at presentation: 14y M no United States Caucasian - 0 - - Hypermanganesemia with dystonia, polycythemia and cirrhosis spastic paraparesis, hepatomegaly, hepatic cirrhosis; Hypermanganesemia SLC30A10 SLC30A10 1 1 Johan den Dunnen
00107801 - PubMed: Tuschl 2012 Age at presentation: 3y F yes Pakistan Punjabi - 0 - - Hypermanganesemia with dystonia, polycythemia and cirrhosis dystonia; Hypermanganesemia SLC30A10 SLC30A10 1 1 Johan den Dunnen
00107802 - PubMed: Tuschl 2012 Age at presentation: 3y F yes Pakistan Punjabi - 0 - - Hypermanganesemia with dystonia, polycythemia and cirrhosis dystonia; Hypermanganesemia SLC30A10 SLC30A10 1 1 Johan den Dunnen
00107803 - PubMed: Tuschl 2012 Age at presentation: 5y M yes Pakistan Punjabi - 0 - - Hypermanganesemia with dystonia, polycythemia and cirrhosis dystonia; Hypermanganesemia SLC30A10 SLC30A10 1 1 Johan den Dunnen
00107804 - PubMed: Tuschl 2012 Age at presentation: 5y M yes Pakistan Punjabi - 0 - - Hypermanganesemia with dystonia, polycythemia and cirrhosis dystonia, hepatomegaly; Hypermanganesemia SLC30A10 SLC30A10 1 1 Johan den Dunnen
00107805 - PubMed: Tuschl 2012 Age at presentation: 11y F no Philippines Indo_Malay - 0 - - Hypermanganesemia with dystonia, polycythemia and cirrhosis dystonia; Hypermanganesemia SLC30A10 SLC30A10 1 1 Johan den Dunnen
00107806 - PubMed: Tuschl 2012 Age at presentation: 2y, died at 25y because of complications of cirrhosis M yes Brazil Portuguese/Amerindian - 0 - - Hypermanganesemia with dystonia, polycythemia and cirrhosis dystonia, hepatic cirrhosis; Hypermanganesemia SLC30A10 SLC30A10 1 1 Johan den Dunnen
00107807 - PubMed: Tuschl 2012 Age at presentation: 3y F yes Brazil Portuguese/Amerindian - 0 - - Hypermanganesemia with dystonia, polycythemia and cirrhosis dystonia, hepatic cirrhosis; Hypermanganesemia SLC30A10 SLC30A10 1 1 Johan den Dunnen
00107808 - PubMed: Tuschl 2012 Age at presentation: 5y F no India Punjabi - 0 - - Hypermanganesemia with dystonia, polycythemia and cirrhosis dystonia, hepatomegaly; Hypermanganesemia SLC30A10 SLC30A10 1 1 Johan den Dunnen
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