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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 type Maroteaux (NPR2) Short middle & distal segments etc Autosomal Recessive 9p13.3 Missense NPR2 890C>T Thr297Met Amino Acid Substitution 0/Bartels et al., 2004