Allan-Herndon-Dudley syndrome

Disease Overview

Allan-Herndon-Dudley syndrome is a disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have speech and a limited ability to communicate, they seem to enjoy interaction with others. Allan-Herndon-Dudley syndrome is caused by mutations in the SLC16A2 gene. It is inherited in an X-linked recessive manner.[7474] 

Synonyms

• AHDS
• Allan-Herndon syndrome
• Monocarboxylate transporter-8 deficiency
• Triiodothyronine resistence
• T3 resisitence
• Intellectual disability and muscular atrophy
• X-linked intellectual disability with hypotonia