All individuals with variants in gene PRX

42 entries on 1 page. Showing entries 1 - 42.
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Owner     
00036592 - - - - - Germany - - 0 - - ? suspected autosomal rezessive HMSN (parents consanguine), neurogenic myatrophy 1 1 Andreas Laner
00036593 - - - - - Germany - - 0 - - ? suspected autosomal rezessive HMSN (parents consanguine), neurogenic myatrophy 1 1 Andreas Laner
00036594 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036595 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036596 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036597 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00151385 - - - M - (Germany) - - 0 - - ? Sensory ataxia (HP:0010871); Polyneuropathy (HP:0001271); Pes cavus (HP:0001761) 1 1 IMGAG
00151902 - PubMed: Takashima 2002 - - - - - - 0 - - DejerineSottas - 1 1 Johan den Dunnen
00151903 - PubMed: Otagiri 2006 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151904 - PubMed: Guilbot 2001 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151905 - PubMed: Baets 2011 - - - - - - 0 - - HMSN - 1 1 Johan den Dunnen
00151906 - PubMed: Marchesi 2010 - - - - - - 0 - - neuropathy - 1 1 Johan den Dunnen
00151907 - PubMed: Nouioua 2011 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151908 - PubMed: Boerkoel 2001 - - - - - - 0 - - DejerineSottas - 1 1 Johan den Dunnen
00151909 - PubMed: Kabzinska 2006 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151910 - PubMed: Marchesi 2010 - - - - - - 0 - - neuropathy - 1 1 Johan den Dunnen
00151911 - PubMed: Marchesi 2010 - - - - - - 0 - - neuropathy - 1 1 Johan den Dunnen
00151912 - PubMed: Auer-Grumbach 2008 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151913 - PubMed: Takashima 2002 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151914 - PubMed: Boerkoel 2001 - - - - - - 0 - - DejerineSottas - 1 1 Johan den Dunnen
00151915 - PubMed: Marchesi 2010 - - - - - - 0 - - neuropathy - 1 1 Johan den Dunnen
00151916 - PubMed: Boerkoel 2001 - - - - - - 0 - - DejerineSottas - 1 1 Johan den Dunnen
00151917 - PubMed: Boerkoel 2001 - - - - - - 0 - - DejerineSottas - 1 1 Johan den Dunnen
00151918 - PubMed: Kabzinska 2009 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151919 - PubMed: Kijima 2004 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151920 - PubMed: Baets 2011 - - - - - - 0 - - HMSN - 1 1 Johan den Dunnen
00219072 28902413-Pat82 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - CMT CMT4F, Dejerine-Sottas 1 1 Johan den Dunnen
00219073 28902413-Pat83 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - CMT CMT4F, Dejerine-Sottas; no family history 1 1 Johan den Dunnen
00219074 28902413-Pat84 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - CMT CMT4F, Dejerine-Sottas; no family history 2 1 Johan den Dunnen
00219075 28902413-Pat85 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - CMT CMT4F, Dejerine-Sottas; no family history 2 1 Johan den Dunnen
00263958 ? - - - - Spain - - 0 - - CMT2 - 1 1 Carmen Espinós
00263959 ? - - - - Spain - - 0 - - CMT2 - 1 1 Carmen Espinós
00292120 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 29 Mohammed Faruq
00292121 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00292122 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00292123 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00292124 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00292125 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00303628 Family_39 PubMed: Makrythanasis 2014 family, 2 affected - yes Egypt - - 0 - - ? see paper; ..., nonsyndromic intellectual disability/developmental delay 1 2 Johan den Dunnen
00304660 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00374451 S-5616 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Features suggestive of neuropathy 1 1 Johan den Dunnen
00391977 MDCRC/1173/DBI-989 MDCRC 2021, submitted - M no India - - 0 yes - DMD frequent falls (HP:0002359) 2 1 Lakshmi Bremadesam
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