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Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Warburg Micro Syndrome 3 (WARBM3, RAB18) Brain, eye, & endocrine abnormalities Autosomal Recessive 10p12.1 Missense RAB18 71T>A Leu24Gln Amino Acid Substitution Bem et al., 2011/2011