Gedeon et al. (1994) reported a family in which 6 males spanning 3 generations had moderate mental retardation with slow speech development inherited in an X-linked pattern. No significant common dysmorphic features were noted.
Donnelly et ... Gedeon et al. (1994) reported a family in which 6 males spanning 3 generations had moderate mental retardation with slow speech development inherited in an X-linked pattern. No significant common dysmorphic features were noted. Donnelly et al. (1996) reported a 4-generation family with multiple males affected with global retardation that became apparent between ages 2 and 4 years. Inheritance was X-linked. Affected males had moderate mental retardation without other obvious abnormalities. Froyen et al. (2008) reported 4 families with X-linked mental retardation. Affected individuals in 1 of the families, of Finnish origin, had moderate mental retardation, speech difficulties, dysarthria, and mild dysmorphic facies. Affected individuals in the other families showed mild to moderate intellectual handicap with speech delay and hyperactivity. One patient had moderate macroorchidism.