Bhalla et al. (2008) reported a 56-year-old white woman with severe mental retardation (IQ of 16). Facial dysmorphic features included alternating exotropia, flat midface, some downslanting of the lower eyelids, thin nasal bridge, rounded nasal tip, nasal septum ... Bhalla et al. (2008) reported a 56-year-old white woman with severe mental retardation (IQ of 16). Facial dysmorphic features included alternating exotropia, flat midface, some downslanting of the lower eyelids, thin nasal bridge, rounded nasal tip, nasal septum below the alae nasi, and small chin. She also had short fifth fingers and fingernails, broad and short feet with short toes, and syndactyly of several toes.
In 4 of 647 unrelated patients with mental retardation, Bhalla et al. (2008) identified 4 different heterozygous mutations in the CDH15 gene (see, e.g., 114019.0001-114019.0003). Detailed clinical features were not given. One affected woman with mild intellectual disability ... In 4 of 647 unrelated patients with mental retardation, Bhalla et al. (2008) identified 4 different heterozygous mutations in the CDH15 gene (see, e.g., 114019.0001-114019.0003). Detailed clinical features were not given. One affected woman with mild intellectual disability transmitted the mutation to her son who had learning and memory difficulties. In vitro expression studies in mouse cells showed that the mutations decreased cell-to-cell adhesion by greater than 80%.