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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Hyperinsulinemic Hypoglycemia F 4 (HADH) Inappropriately elevated insulin secretion Autosomal Recessive 4q25 Splice site HADH CAGGTCdel at SAS 183?212del Frame shift mutation 0/Molven et al., 2004