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Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Ciliopathy Syndrome (INPP5E) intellectual disability, obesity, congenital retinal dystrophy, and hypogonadism Autosomal Recessive 9q34.3 nonsense mutation INPP5E 1879C>T Gln627* Pre-mature Termination Khan et al., 2019/2019