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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
Frontorhiny (ALX3) Mid-facial malformations Autosomal Recessive 1p13.3?p13.2 Nonsense ALX3 604C>T Gln202* PTC 0/Ullah et al., 2017