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Allan-Herndon-Dudley syndrome [Supplementary Concept]

A rare, congenital X-linked dominant disorder characterized by INTELLECTUAL DISABILITY; COMMUNICATION DISORDERS; MUSCLE SPASTICITY; CONTRACTURES, hypotonia and loss of mobility. Various other anatomical and neurological abnormalities may also be present, as well as abnormal serum thyroid hormone levels. Mutations in the SLC16A2 gene have been identified. OMIM: 300523

Date introduced: June 25, 2010

MeSH Unique ID: C537047

Heading Mapped to:

Entry Terms:

  • Monocarboxylate transporter-8 deficiency
  • X-linked mental retardation with hypotonia
  • Mental retardation and muscular atrophy
  • Monocarboxylate Transporter 8 (Mct8) Deficiency
  • Mental Retardation, X-Linked, With Hypotonia
  • Monocarboxylate Transporter 8 Deficiency
  • T3 Resistance
  • Mct8 (Slc16a2)-Specific Thyroid Hormone Cell Transporter Deficiency
  • Allan-Herndon syndrome
  • Triiodothyronine Resistance

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