11. Mutations in this gene result in pontocerebellar hypoplasia type 2. 12. Endocrinopathy manifests as amenorrhea and hypoplasia of the uterus. 13. It is also sometimes called " Mandibular hypoplasia ". 14. The syndrome involves hypoplasia of variable severity of cartilaginous nasal septum and premaxilla. 15. This type of deformity is also thought to be caused by enamel hypoplasia . 16. Among the claimed birth defects are clubfoot, thumb hypoplasia , behavioral problems. 17. With relations to dentistry, a deficiency in Vitamin A leads to enamel hypoplasia . 18. X-linked adrenal hypoplasia congenita is caused by mutations in the NR0B1 gene. 19. Thumb hypoplasia has been described in 30 syndromes wherein those abnormalities have been seen. 20. Unilateral renal hypoplasia and aplasia have both been reported in individuals with ring 18.
