All individuals with variants in gene SLC17A5

2 entries on 1 page. Showing entries 1 - 2.
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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 - Trujillano et al., submitted unaffected parents - - - - - 0 - - SD Salla disease (OMIM:604369) 1 1 Daniel Trujillano
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