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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
Hydatidiform Mole Recurrent 2 (KHDC3L) Repeated pregnancy loss etc Autosomal Recessive 6q13 Nonsense KHDC3L 3G>T Met1* Premature Termination 0/Parry et al., 2011