Disease #01069 (OHS (occipital horn syndrome (OHS)), OMIM:304150)

Official abbreviation OHS
Name occipital horn syndrome (OHS)
OMIM ID 304150
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 15
Phenotype entries for this disease 15
Associated with 1 gene ATP7A
Associated tissues -
Disease features -
Remarks -


Individuals

15 entries on 1 page. Showing entries 1 - 15.
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00312101 - PubMed: Levinson 1996 single case - - - - - - - - OHS OHS ATP7A ATP7A 1 1 Zeynep Tümer
00312144 - PubMed: Dagenais 2001 familial, single patient - - - - - - - - OHS OHS ATP7A ATP7A 1 1 Zeynep Tümer
00312186 - PubMed: Ronce 1997 single case - - - - - - - - OHS OHS ATP7A ATP7A 1 1 Zeynep Tümer
00312204 - PubMed: Kaler 1994, PubMed: Skjørringe 2011 single case - - - - - - - Cu treatment OHS OHS ATP7A ATP7A 1 2 Zeynep Tümer
00312214 - PubMed: Møller 2005, PubMed: de Bie 2007 familial - - - - - - - - OHS OHS ATP7A ATP7A 1 1 Zeynep Tümer
00312228 patient 8 PubMed: Moizard 2010 familial - - - - - - - - OHS OHS ATP7A ATP7A 1 1 Zeynep Tümer
00312238 - PubMed: Tang 2006, PubMed: de Bie 2007, PubMed: Vonk 2011 single case - - - - - - - - OHS OHS brothers, alive 13y/6y ATP7A ATP7A 1 1 Zeynep Tümer
00312255 - PubMed: Gu 2001 - - - - - - - - - OHS OHS ATP7A ATP7A 1 1 Zeynep Tümer
00312256 - PubMed: Møller 2000, PubMed: Skjørringe 2011) familial, mother carrier - - - - - - - - OHS OHS ATP7A ATP7A 1 2 Zeynep Tümer
00312280 - PubMed: Qi 1998 familial - - - - - - - - OHS OHS ATP7A ATP7A 1 2 Zeynep Tümer
00312292 - PubMed: Das 1995, PubMed: Skjørringe 2011 single case - - - - - - - - OHS OHS ATP7A ATP7A 1 2 Zeynep Tümer
00312293 - PubMed: Skjørringe 2011 familial - - - - - - - - OHS OHS ATP7A ATP7A 1 1 Zeynep Tümer
00312301 - PubMed: Levinson 1993, PubMed: Das 1995, PubMed: Skjørringe 2011 single case - - - - - - - - OHS OHS ATP7A ATP7A 1 3 Zeynep Tümer
00312311 - PubMed: Skjørringe 2011 single case, mother carrier - - - - - - - - OHS OHS ATP7A ATP7A 1 1 Zeynep Tümer
00312525 P1 Yasmeen S. - M - - - - - - - OHS OHS ATP7A ATP7A 3 1 Lisbeth Birk Møller
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