All individuals with variants in gene NDE1

12 entries on 1 page. Showing entries 1 - 12.
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AscendingIndividual ID     

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Age at death     

VIP     

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Disease     

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Owner     
00050510 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? polydactyly (feet), cerebellar hypoplasia, feeding difficulties in infancy, abnormality of the nervous system, enlarged cisterna magna, global developmental delay, dandy-walker malformation, neonatal alloimmune thrombocytopenia, abnormality of the penis, abnormality of the tongue, upslanted palpebral fissure, epicanthus, abnormality of the lip, abnormality of the ear, abnormality of the umbilicus, abnormality of eye movement 1 1 Johan den Dunnen
00050546 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? intrauterine growth retardation, short stature, clubbing, feeding difficulties in infancy, iga deficiency, microcephaly 1 1 Johan den Dunnen
00107929 - PubMed: Alkuraya 2011 sister of patient 08DG00536; parents first cousins - yes Saudi Arabia - - 0 - - LIS4 Microlissencephaly 1 1 Johan den Dunnen
00107930 - PubMed: Alkuraya 2011 sister of patient 08DG00535; parents first cousins - yes Saudi Arabia - - 0 - - LIS4 Microlissencephaly 1 1 Johan den Dunnen
00107931 - PubMed: Alkuraya 2011 parents first cousins - yes Saudi Arabia - - 0 - - LIS4 Microlissencephaly 1 1 Johan den Dunnen
00291377 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00291378 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 101 Mohammed Faruq
00291379 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00291380 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 142 Mohammed Faruq
00291381 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 144 Mohammed Faruq
00304496 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00304497 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
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