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Allan-Herndon-Dudley syndrome
rareA syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.
- Identifiers
- MONDO:0010354 OMIM:300523Orphanet:59
- Causal genes
- SLC16A2
- Also known as
- AHDS · ALLAN-Herndon syndrome · intellectual disability and muscular atrophy · MCT8 deficiency · MCT8-specific thyroid hormone cell Membrane transporter deficiency
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