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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
Spondyloepiphyseal dysplasia & HI (CHST3) Spondyloepiphyseal & hearing loss Autosomal Recessive 10q22.1 Nonsense CHST3 802G>T Glu268* Premature Termination Waryah et al., 2016/2016