| Syndrome with characteristics of psychomotor retardation, microcephaly, up-slanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. Other anomalies can be present and include long thin hands and feet, ambiguous genitalia, hypertelorism. There is evidence that this syndrome is caused by homozygous or compound heterozygous mutation in the UBE3B gene (608047) on chromosome 12q24. |
