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

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/610156