All individuals with variants in gene TMEM237

30 entries on 1 page. Showing entries 1 - 30.
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00028949 1-44 Pat19 PubMed: Kroes 2016 - - - - Europe-N - 0 - - JBTS1 - 1 1 Sanne Savelberg
00056063 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS1 Meckel-Gruber syndrome 1 1 Christopher Watson
00117485 - PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - JBTS14 encephalocele;cystic kidney; 1 1 Lijia Huang
00117486 - PubMed: Boycott 2007, PubMed: Huang 2011 - M yes Canada Hutterite - 0 - - JBTS14 molar tooth sign; posterior fossa abnormality; hydrocephalus; cystic kidney; nystagmus; strabismus; optic atrophy 1 1 Lijia Huang
00117487 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - JBTS14 molar tooth sign; posterior fossa abnormality; hydrocephalus; encephalocele; cystic kidney; Nystagmus; strabismus 1 1 Lijia Huang
00117488 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - JBTS14 cerebellar vermis hypoplasia; nystagmus; strabismus 1 1 Lijia Huang
00117489 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - JBTS14 cerebellar vermis hypoplasia; nystagmus; strabismus 1 1 Lijia Huang
00117490 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased M yes Canada Hutterite - 0 - - JBTS14 molar tooth sign; nystagmus; strabismus; coloboma;intracranial bleed 1 1 Lijia Huang
00117491 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - JBTS14 encephalocele; hydrocephalus; cystic kidney; cleft palate 1 1 Lijia Huang
00117492 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - JBTS14 hydrocephalus; cystic kidney;postaxial polydactyly 1 1 Lijia Huang
00117493 - PubMed: Boycott 2007, PubMed: Huang 2011 - F yes Canada Hutterite - 0 - - JBTS14 molar tooth sign; encephalocele; cystic kidney; nystagmus; strabismus; coloboma; ventricular septal defect 1 1 Lijia Huang
00117494 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - JBTS14 encephalocele; hydrocephalus; Dandy-Walker variant; cystic kidney; nystagmus; strabismus 1 1 Lijia Huang
00117495 - PubMed: Boycott 2007, PubMed: Huang 2011 - M yes Canada Hutterite - 0 - - JBTS14 molar tooth sign; posterior fossa abnormality; cystic kidney; nystagmus; strabismus 1 1 Lijia Huang
00117496 - PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - JBTS14 molar tooth sign; Dandy-Walker variant; hydrocephalus; encephalocele; cystic kidney 1 1 Lijia Huang
00117497 - PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - JBTS14 molar tooth sign; Dandy-Walker variant; hydrocephalus; encephalocele; cystic kidney; nystagmus 1 1 Lijia Huang
00117498 - PubMed: Huang 2011 - M yes Canada Hutterite - 0 - - JBTS14 molar tooth sign; Dandy-Walker variant; hydrocephalus; cystic kidney; nystagmus 1 1 Lijia Huang
00117499 - PubMed: Huang 2011 - F no (United States) Hispanic;European - 0 - - JBTS14 molar tooth sign; hydrocephalus; posterior fossa abnormality; cortical visual impairment; cystic kidney; nystagmus; strabismus 2 1 Lijia Huang
00117500 - PubMed: Janecke 2004, PubMed: Huang 2011 deceased F yes Austria - - 0 - - JBTS14 cerebellar vermis aplasia; cystic kidney; morning glory disc anomaly; 1 1 Lijia Huang
00117501 - PubMed: Janecke 2004, PubMed: Huang 2011 fetus died at 22 weeks - yes Austria - - 0 - - JBTS14 hydrocephalus; cerebellar vermis aplasia; corpus callosum hypoplasia; meningocele; cystic kidney; morning glory disc anomaly 1 1 Lijia Huang
00117502 - PubMed: Janecke 2004, PubMed: Huang 2011 - F yes Austria - - 0 - - JBTS14 cerebellar vermis aplasia; brain stem hypoplasia; cystic kidney; nystagmus; morning glory disc anomaly 1 1 Lijia Huang
00117503 23169490-MKS_F1 PubMed: Shaheen 2013 - - yes Saudi Arabia - - 0 - - MKS see paper; ... 1 1 Anas M Alazami
00117504 - PubMed: Huang 2011 - M yes Jordan - - 0 - - JBTS14 meningomyelocele; cortical visual impairment 1 1 Lijia Huang
00292541 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 72 Mohammed Faruq
00304776 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00358953 Case70052 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - retinal disease see paper; ... 1 1 LOVD
00372342 UW098-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00377691 474 PubMed: Brooks 2018 family 83 F - United States - - 0 - - retinal disease kidney disease, oculomotor apraxia, nystagmus, strabismus, ptosis, coloboma - retina 2 1 LOVD
00379586 - PubMed: alazami-2012 - - - Saudi Arabia - - 0 - - retinal disease - 1 2 LOVD
00387614 - PubMed: Watson 2016 Iannicelli M,2010. Khaddour R,2007. Doherty D,2010 - - - - - 0 - - retinal disease - 1 1 LOVD
00388098 474 PubMed: Summers 2017 - - - United States - - 0 - - retinal disease - 2 1 LOVD
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