×

Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Nephronophthisis(NPHP1) polyuria,polydipsia,nocturnal enuresis Autosomal Recessive 2q13 Nonsense Mutation NPHP1 1363 C>T R455X Truncated Protein 0/Hussain S,et.al,...2018