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Purine nucleoside phosphorylase deficiency has an autosomal recessive pattern of inheritance.
Renal dysplasia-limb defects syndrome (RL syndrome), also known as Ulbright–Hodes syndrome, is a very rare autosomalrecessivecongenital disorder. It has been described in three infants, all of whom died shortly after birth.
RL syndrome is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Diagnosis
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Treatment
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References
Maruotti, G. M.; Agangi, A.; Napolitano, R.; Mazzarelli, L. L.; Quaglia, F.; Carbone, I. F.; d'Armiento, M. R.; Martinelli, P. (Mar 2009). "Prenatal diagnosis of Ulbright-Hodes syndrome". Journal of Ultrasound in Medicine. 28 (3): 385–388. doi:10.7863/jum.2009.28.3.385. PMID19244077. S2CID25896892.
^ Schrander-Stumpel C, D. D. S. C. (Sep 1990). "Limb reduction defects and renal dysplasia: Confirmation of a new, apparently lethal, autosomal recessive MCA syndrome". American Journal of Medical Genetics. 37 (1): 133–135. doi:10.1002/ajmg.1320370131. PMID2240030.
