All individuals with variants in gene SLC6A19

3 entries on 1 page. Showing entries 1 - 3.
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00410544 Pat6 PubMed: Schuermans 2022 analysis 329 adult patients suffering from undiagnosed rare disease F - Belgium - - - - - ? see paper; ..., onset adolescence, androgenetic alopecia, pellagra-like dermatitis, no family history 2 1 Johan den Dunnen
00449548 Pat8 PubMed: Pan 2024, Journal: Pan 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no prenatal complications; developmental delay and/or intellectual disability; delayed speech, delayed language; autism; attention deficit hyperactivity disorder; no hypotonia; no seizure; brain MRI/CT normal; no cardiovascular anoalies; no genitourinary anomalies; no gastrointestinal anomalies; deep-set eyes, up-slanting palpebral fissures, slightly posteriorly rotated ears; 1 1 Johan den Dunnen
00453708 Pat124 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 2 1 Johan den Dunnen
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