A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.

Autosomal recessive intellectual disability is believed to be particularly prevalent in highly consanguineous populations and genetic isolates and may account for a quarter of all non-syndromic cases. Mutations in more than 50 genes have been reported to be involved in autosomal recessive intellectual disability, including TRAPPC9 (MIM 611966), mutations of which have been identified in six families from different geographical origins. We performed a clinical and molecular genetic study of a consanguineous Pakistani family segregating intellectual disability and microcephaly.

Clinical features and early diagnosis of typhoid fever emphasizing usefulness of detecting mesenteric lymphadenopathy with ultrasound as diagnostic method.

Typhoid fever is endemic in Pakistan. Most patients are children. As the symptoms and signs are often unspecific, it is difficult to diagnose typhoid fever without blood culture.