Allan-Herndon-Dudley syndrome
Allan-Herndon-Dudley syndrome
Definition
A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.
Also known as AHDS, ALLAN-Herndon syndrome, Allan-Herndon-Dudley syndrome, MCT8 deficiency, MCT8-specific thyroid hormone cell Membrane transporter deficiency, MCT8-Specific Thyroid Hormone Cell Transporter Deficiency, monocarboxylate transporter 8 deficiency, X-linked intellectual disability-hypotonia syndrome — per MONDO