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mental retardation-truncal obesity-retinal dystrophy-micropenis (MORMS)
Genetics:
- autosomal recessive
- associated with defects in INPP5E
Clinical manifestations:
- moderate mental retardation
- truncal obesity
- congenital non-progressive retinal dystrophy
- micropenis in males
Differential diagnosis:
- phenotype is similar to Bardet-Biedl syndrome & Cohen syndrome
- distinguishing features
- age of onset
- non-progressive nature of the visual impairment
- lack of dysmorphic facies, skin or gingival infection
- microcephaly
- mottled retina
- polydactyly
- testicular anomalies
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 610156
References
OMIM :accession 610156