All individuals with variants in gene RIN2

9 entries on 1 page. Showing entries 1 - 9.
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00239141 FamPatIII2 PubMed: Shaukat 2019 3-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives heterozygous carriers M yes Pakistan Asian - 0 - - ? height 124cm (-3.4 SD), polydactyly, walking difficulties, speech impairment, no blindness, macrocephaly, alopecia, scoliosis, cutis laxa, no umbilical hernia, facial coarsening 1 5 Sadaf Naz
00265912 FamPatIII1 PubMed: Shaukat 2019 - F yes Pakistan - - 0 - - BBS height 139cm (-3.5 SD), polydactyly, walking difficulties, speech impairment, blindness, no macrocephaly, no alopecia, no scoliosis, no cutis laxa, no umbilical hernia, no facial coarsening 1 1 Sadaf Naz
00265913 FamPatIII3 PubMed: Shaukat 2019 - M yes Pakistan - - 0 - - BBS height 126cm (-0.1 SD), no polydactyly, walking difficulties, speech impairment, blindness, no macrocephaly, no alopecia, no scoliosis, no cutis laxa, no umbilical hernia, no facial coarsening 1 1 Sadaf Naz
00265914 FamPatIII4 PubMed: Shaukat 2019 - F yes Pakistan - - 0 - - MACS height 111cm (-0.6 SD), no polydactyly, no walking difficulties, no speech impairment, no blindness, macrocephaly, no alopecia, no scoliosis, no cutis laxa, umbilical hernia, facial coarsening 1 1 Sadaf Naz
00265915 FamPatIII5 PubMed: Shaukat 2019 - - yes Pakistan - - 0 - - MACS height 96cm (-1.3 SD), no polydactyly, no walking difficulties, no speech impairment, no blindness, macrocephaly, alopecia, scoliosis, no cutis laxa, umbilical hernia, facial coarsening 1 1 Sadaf Naz
00292883 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 8 Mohammed Faruq
00292884 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00292885 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00292886 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 28 Mohammed Faruq
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