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