Mental Retardation, Autosomal Recessive 28

Clinical Features

Abou Jamra et al. (2011) reported a consanguineous Syrian family (MR073) in which 3 sibs had nonsyndromic mental retardation. Symptoms included normal neonatal development, moderate intellectual disability, mild microcephaly, moderate motor delay, severe lingual delay, and white matter deficiencies on brain CT.

Mapping

By homozygosity mapping of a consanguineous Syrian family with mental retardation, Abou Jamra et al. (2011) found linkage to a 4.4-Mb region on chromosome 6q between SNPs rs6935718 and rs3886091 (lod score of 3.36).