MORM syndrome is an autosomal recessive disorder related to Joubert syndrome 1. It is caused by mutations of the same gene, INPP5E.
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Jacoby M et al. (2009) INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. |
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Hampshire DJ et al. (2006) MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34. |
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OMIM.ORG article Omim 610156 |
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Orphanet article Orphanet ID 75858 |
5. |
Wikipedia article Wikipedia EN (MORM_syndrome) |