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Summary
RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (RDJCSS)
616108
OMIM = Online Medalian Inheritance of Men
436245
1q24.1
rare
autosomal recessive
mutation in the RDH11 gene
symptoms
blindness, visual loss, visual impairment
cataract
dysmorphism
learning disability
onset, adolescent
onset, childhood
psychomotor retardation
retinitis pigmentosa
short stature
laboratory finding
no specific laboratory findings (P, S, U ,CSF) urine
Literature
Bassett AS,et al.Clinical features of 78 adults with 22q11 Deletion SyndromeAm J Med Genet A1384307-3132005