All individuals with variants in gene SLC5A6

7 entries on 1 page. Showing entries 1 - 7.
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00372581 1-1 PubMed: Holling 2022 - F no India - - - - - neuropathy - 1 3 Tess Holling
00372582 1-2 PubMed: Holling 2022 - F no India - - - - - neuropathy - 1 1 Tess Holling
00372583 1-3 PubMed: Holling 2022 - M no India - - - - - neuropathy - 1 1 Tess Holling
00372584 2-1 PubMed: Holling 2022 - F no United States - - - - - neuropathy - 2 1 Tess Holling
00384980 - PubMed: Holling 2022 - F no India - - - - - neuropathy - 1 1 Tess Holling
00384982 patient PubMed: Subramanian 2017 2-generation family, 1 affected, unaffected parents M - United States - - - - - ? see paper; ..., 15m-failure to thrive, microcephaly, MRI brain changes, cerebral palsy, developmental delay, variable immunodeficiency,severe gastro-esophageal reflux requiring a gastrostomy tube/fundoplication, osteoporosis, pathologic bone fractures; responded clinically to supplemental administration of excess biotin, pantothenic acid, and lipoate with improvement in clinical findings. 2 1 Johan den Dunnen
00384983 FamPatII1/2 PubMed: Byrne 2019 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M - Australia - - - - - NDD see paper; ... 2 2 Johan den Dunnen
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