Allan-Herndon-Dudley Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare, X-linked recessive inherited syndrome caused by mutations in the SLC16A2 (MCT8) gene. It affects exclusively males and is characterized by mental retardation, limited mobility, muscle hypoplasia, hypotonia, contractures, and spasticity.

**Synonyms:** - MCT8-Specific Thyroid Hormone Cell Membrane Transporter Deficiency - Monocarboxylate Transporter 8 Deficiency