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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
Laryngo-onycho-cutaneous Syndrome (LAMA3) Skin blistering etc Autosomal Recessive 18q11.2 Insertion LAMA3 118insG Frame shift mutation McLean et al., 2003/2003
Laryngo-onycho-cutaneous Syndrome (LAMA3) Skin blistering etc 18q11.2 Insertion LAMA3 151insG McLean et al., 2003/2003
Laryngo-onycho-cutaneous Syndrome (LAMA3) Skin blistering etc 18q11.2 Nonsense LAMA3 2827C>T Arg943* Premature Termination McLean et al., 2003/2003