All individuals with variants in gene SPTLC2

29 entries on 1 page. Showing entries 1 - 29.
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Owner     
00037179 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037180 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037181 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037182 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037183 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037184 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037185 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037186 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037187 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037188 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037189 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037190 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037191 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037192 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037193 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037194 - - - - - Germany - - 0 - - ? suspected HSAN1, clinical neuropathy with intestinal voiding dysfunction and voiding dysfunction, pallanaesthesia, Ballenhohlfuß bilateral, weakness of dorsal flexor (of the foot) with steppage gait, amblyopia, mental retardation 1 1 Andreas Laner
00037195 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037196 - - - - - Germany - - 0 - - ? suspected HSN 1 1 Andreas Laner
00151943 20920666-FamCMT747PatI1 PubMed: Rotthier 2010 2-generation family, 1 affected F - Austria - - 0 - - HSAN - 1 1 Johan den Dunnen
00151944 20920666-FamCMT117 PubMed: Rotthier 2010 2-generation family, 1 affected mother/son F;M no Austria - - 0 - - HSAN - 1 2 Johan den Dunnen
00151945 20920666-FamCMT635 PubMed: Rotthier 2010 2-generation family, 1 affected, unaffected non-carrier parents M no Czech Republic - - 0 - - HSAN - 1 1 Johan den Dunnen
00151946 20920666-FamCMT1044 PubMed: Rotthier 2010 2-generation family, 1 affected, unaffected non-carrier relatives F - Germany - - 0 - - HSAN - 1 1 Johan den Dunnen
00219046 28902413-Pat56 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - HSAN HSAN1C 1 1 Johan den Dunnen
00291125 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 6 Mohammed Faruq
00300024 Pat17 PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - HSN - 1 1 Johan den Dunnen
00300030 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT-2 - 1 1 Johan den Dunnen
00300102 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - HSN - 1 1 Johan den Dunnen
00300103 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - HMN - 1 1 Johan den Dunnen
00300104 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT-2 - 1 1 Johan den Dunnen
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