Allan-Herndon-Dudley syndrome

Term ID

DOID:0050631

Synonyms

• AHDS
• ALLAN-HERNDON SYNDROME

Definition

A syndrome that has_material_basis_in mutation at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement. (2)

References

• GARD:5617
• MESH:C537047
• OMIM:300523
• ORDO:59

Ontology

Human Disease   ( DOID:0050631 )