The use of a computerised database for the diagnosis of a rare neurological syndrome.

摘要: A database which runs on an office microcomputer is being developed for the diagnosis of genetically determined neurological disorders. At present about 1100 conditions with their clinical features and 3000 references are stored in database. We discuss a family 3 sibs affected by unique disorder show how used. The sibs, 4, 5 10 years old, same course characterized congenital cataracts, microcephaly, hypotonia, mental retardation, pyramidal signs choreoathetoid movements starting early childhood. parents first cousins Bangladeshi origin. This condition does not appear published report listed It can therefore be concluded that have autosomal recessive disorder.