Allan-Herndon-Dudley syndrome

Recommended panel testing at Breda Genetics for this condition: Allan-Herndon-Dudley syndrome and its differential diagnosis (ABCD1, ASPA, ARSA, GALC, GJC2, MECP2, PLP1, SLC16A2, SMS, THRA) Summary Allan-Herndon-Dudley syndrome (AHDS), also known as MCT8-specific thyroid hormone cell-membrane transporter deficiency, is a rare disorder of brain development with neuromuscular involvement accompanied by specific changes in circulating thyroid […]

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