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ENSodium-Dependent Multivitamin Transporter Deficiency (SMVTD)
Alias:
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Smvt Deficiency
Smvtd
Nerib
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Sodium-Dependent Multivitamin Transporter Deficiency, also known as neurodegeneration, infantile-onset, biotin-responsive, is related to metabolic acidosis and inherited metabolic disorder. An important gene associated with Sodium-Dependent Multivitamin Transporter Deficiency is SLC5A6 (Solute Carrier Family 5 Member 6). Affiliated tissues include brain and pons, and related phenotypes are nystagmus and global developmental delay
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MALACARDS
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