All individuals with variants in gene SLC17A5

9 entries on 1 page. Showing entries 1 - 9.
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00050621 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected parents M - United Kingdom (Great Britain) - - 0 Decipher - ? global developmental delay, aggressive behavior, restrictive behavior, microcephaly, abnormal facial shape, macrotia, abnormality of eye movement 1 2 Johan den Dunnen
00080925 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - SD Salla disease (OMIM:604369) 1 1 Daniel Trujillano
00209033 28771251-Pat59 PubMed: Lionel 2018 - F - Canada - - 0 - - ? Complex neurological phenotype 2 1 Johan den Dunnen
00294181 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 109 Mohammed Faruq
00294182 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00305114 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00331566 15DG0877 PubMed: Maddirevula 2018 family M yes - Arab - 0 - - skeletal dysplasia Fetal ascites, Pulmonary hypoplasia, Neonatal respiratory distress, Potter facies, Low-set No 1 1 LOVD
00358877 SLC17A5 - - - ? - - - - - - ? - 1 1 Muhammad Umair
00401512 124P - - M no Spain - - - - - ID, ISSD, SD - 2 1 Alejandro Brea-Fernández
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