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RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (RDJCSS)

RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (RDJCSS)
616108
OMIM = Online Mendelian Inheritance of Men
436245
Retinol dehydrogenase 11
1.1.1.300
1q24.1
Q87.8
rare
autosomal recessive
mutation in the RDH11 gene
Laboratory findings    no specific laboratory findings (P, S, U ,CSF) ()
Symptoms    blindness, visual loss, visual impairment
    cataract
    dysmorphism
    learning disability
    onset, adolescent
    onset, childhood
    psychomotor retardation
    retinitis pigmentosa
    short stature