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