Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited.
A previously apparently undescribed "syndrome" is reported in which megalocornea and iris anomalies are accompanied by minor facial and skeletal anomalies, severe mental retardation, hypotonia, and seizures. The condition was found in 3 siblings of one family and in 4 sporadic cases; it is thought to be recessively inherited.
D002547:Cerebral Palsy / Q000235:genetics*; D002675:Child, Preschool; D003315:Cornea / Q000002:abnormalities*; D003878:Dermatoglyphics; D004569:Electroencephalography; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007498:Iris / Q000002:abnormalities; D009129:Muscle Tonus; D010375:Pedigree; D012640:Seizures / Q000235:genetics*; D013577:Syndrome