Allan-Herndon-Dudley syndrome

Description

A rare X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

Cell Lines

Link

For more information, please consult the corresponding entry in Orphanet* .

*Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1999. Available on http://www.orpha.net.