Lubs X-linked mental retardation syndrome

Overview

Type of disease: Rare conditions

Lubs X-linked mental retardation is a genetic condition first described in 1999 by Lubs et al. The condition  is associated with severe mental retardation, infantile hypotonia (low muscle tone), recurrent respiratory infection, absence of speech development, progressive neurological problems (such as seizures and spasticity), and mild facial abnormalities.  Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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