Allan-Herndon-Dudley syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An X-linked disease that is caused by mutation 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. (Human Disease Ontology, DOID_0050631)
External Link http://www.omim.org/entry/300523
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Genes

1 genes associated with the Allan-Herndon-Dudley syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)