Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
MORM syndrome is an autosomal recessive disorder related to Joubert syndrome 1. It is caused by mutations of the same gene, INPP5E.
| 1. |
Jacoby M et al. (2009) INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 
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| 2. |
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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| 3. |
OMIM.ORG article Omim 610156
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| 4. |
Orphanet article Orphanet ID 75858
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| 5. |
Wikipedia article Wikipedia EN (MORM_syndrome)
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