X-Linked Mental Retardation Syndrome (XLMR)
General: X-linked mental retardation syndrome, of which many types may exist.
Ocular: Glaucoma may be found in some patients; optic atrophy has been noted.
Clinical: Short stature; small hands and feet; seizures; cleft palate; 'coarse' facial appearance; brachydactyly.
Armfield K, et al. X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28. Am J Med Genet 1999;85:236-242.
Carpenter NJ, et al. X-linked mental retardation syndrome with characteristic 'coarse' facial appearance, brachydactyly, and short stature maps to proximal Xq. Am J Med Genet 1999; 85:230-235.
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