All individuals with variants in gene ATP13A2

13 entries on 1 page. Showing entries 1 - 13.
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00003015 - - - - - - - - - - - KRS;CLN12;PARK9 HSP + Parkinson disease 9 1 1 Marcel Nelen
00102746 21542062-PatIIa PubMed: Park 2011 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M no - Asian - 0 - - KRS;CLN12;PARK9 - 2 2 Johan den Dunnen
00102747 21542062-PatIIb PubMed: Park 2011 sister of IIa F no - Asian - 0 - - KRS;CLN12;PARK9 - 2 1 Johan den Dunnen
00104697 22388936-Fam PubMed: Bras 2012, Journal: Bras 2012 2-generation family, 4 affecteds (3F, M), unaffected heterozygous carrier parents F;M - Belgium - - 0 - - CLN see paper; ..., age at onset 13y/14y/13y/16y, granular osmiophilic deposits lamellar structures 1 4 Johan den Dunnen
00289593 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 43 Mohammed Faruq
00289594 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00289595 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 4 Mohammed Faruq
00289596 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 73 Mohammed Faruq
00289597 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 28 Mohammed Faruq
00304162 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304163 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00307875 ? - - M yes Oman - - 0 - - KRS;CLN12;PARK9 Visual impairment, Retinal dystrophy, Seizures, Muscular hypotonia, Global developmental delay, Brisk reflexes, Hepatomegaly, Exaggerated startle response, Elevated hepatic transaminase, Mongolian blue spot, Brain atrophy, Abnormal myelination 1 1 Corina-Marcela Rus
00374666 S-1003 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 2 1 Johan den Dunnen
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