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Allan-Herndon-Dudley syndrome

^ http://www.orpha.net/ORDO/Orphanet_59


Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

Synonyms: Monocarboxylate transporter 8 deficiency, X-linked intellectual disability-hypotonia syndrome, MCT8 deficiency, AHDS

Term info

database cross reference
  • OMIM:300523 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:G31.8 (NTBT (narrower term maps to a broader term))
  • ICD-10:G31.8 (Attributed)
  • UMLS:C0795889 (E (exact mapping (the terms and the concepts are equivalent)))
  • MeSH:C537047 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

MeSH:C537047, OMIM:300523, UMLS:C0795889, ICD-10:G31.8

notation

ORPHA:59