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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
Spondylocostal Dysostosis 1 (SCDO1, DLL3) vertebral malsegmentation Autosomal Recessive 19q13.2 Deletion DLL3 945delAT Frame shift mutation & PTC 0/Bulman et al., 2000
Spondylocostal Dysostosis 1 (SCDO1, DLL3) vertebral malsegmentation Autosomal Recessive 19q13.2 Missense DLL3 1154G>A Gly385Asp Amino Acid Substitution 0/Bulman et al., 2000