GTR Home > Conditions/Phenotypes > MORM syndrome

Summary

Syndrome with the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34. [from SNOMEDCT_US]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: CORS1, CPD4, JBTS1, MORMS, PPI5PIV, pharbin, INPP5E
    Summary: inositol polyphosphate-5-phosphatase E

Clinical features

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