- MORM syndrome
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MORM syndrome Classification and external resources OMIM 610156 MORM syndrome is an autosomal recessive congenital disorder characterized by mental retardation, truncal obesity, retinal dystrophy, and micropenis".[1]
It is associated with INPP5E.[2]
References
- ^ Hampshire, D. J.; Ayub, M.; Springell, K.; Roberts, E.; Jafri, H.; Rashid, Y.; Bond, J.; Riley, J. H. et al. (May 2006). "MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34" (Free full text). European Journal of Human Genetics 14 (5): 543–548. doi:10.1038/sj.ejhg.5201577. PMID 16493448. http://www.nature.com/ejhg/journal/v14/n5/full/5201577a.html.
- ^ Jacoby M, Cox JJ, Gayral S, et al. (September 2009). "INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse". Nat. Genet. 41 (9): 1027–31. doi:10.1038/ng.427. PMID 19668215.
External links
Categories:- Autosomal recessive disorders
- Congenital disorders
- Rare diseases
- Syndromes
- Genetic disorder stubs
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