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Pedigree of the family with mental retardation, deafness, ankylosis, and altered bone metabolism. Individuals represented as filled symbols exhibit the syndromic phenotype with infantile onset; individuals represented by a half-filled symbol developed arthrosis during late adulthood. Patient VI:5 (quarter-filled symbol) demonstrated mixed hearing loss and speech delay. Family members V:8, V:10, V:11, V:12, VI:8, and VI:10 were used for homozygosity mapping.
