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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
Retinitis Pigmentosa(CLCC1) reduced night vision,loss of central vision Autosomal Recessive 1p13.3 Missense Mutation CLCC1 75C>A D25E Missense Mutation and PTC 0/Li L et.al.,,2018
Retinitis Pigmentosa(CLCC1) short stature,scoliosis,claw-hand deformity Autosomal Recessive 1p13.3 Missense Mutation CLCC1 75C>A D25E Missense Mutation and PTC 0/Li L et.al.,,2018
Retinitis Pigmentosa(CLCC1) nightblindness,loss of peripheral vision Autosomal Recessive 1p13.3 Missense Mutation CLCC1 75C>A D25E Missense Mutation and PTC 0/Li L et.al.,,2018
Retinitis Pigmentosa(CLCC1) nightblindness,loss of peripheral vision Autosomal Recessive 1p13.3 Missense Mutation CLCC1 75C>A D25E Missense Mutation and PTC 0/Li L et.al.,,2018