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LEBER CONGENITAL AMAUROSIS 11; LCA11

LEBER CONGENITAL AMAUROSIS 11; LCA11
613837
OMIM = Online Mendelian Inheritance of Men
65
Inosine-5'-monophosphate dehydrogenase 1
1.1.1.205
7q32.1
H35.5
rare
autosomal dominant
mutation in the IMPDH1 gene
Laboratory findings
Symptoms    impaired visual acuity
    night blindness
    nystagmus
    onset, childhood