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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
Acromesomelic Dysplasia, Grebe type (BMPR1B) Extremely short hands,toe-like finger etc Autosomal Recessive 4q22.3 Nonsense BMPR1B 657G>A Trp219* Premature Termination 0/Graul-Neumann et al., 2014