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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
Hereditary Spastic Paraplegias 3A (SPG3A, ATL1) progressive spasticity & weakness of lower limbs Autosomal Recessive 14q22.1 Missense ATL1 353G>A Arg118Gln Amino Acid Substitution 0/Khan et al., 2014
Spastic Paraplegias 3A (SPG3A, ATL1) progressive spasticity & weakness of lower limbs Autosomal Recessive 14q22.1 Missense ATL1 353G>A Arg118Gln Amino Acid Substitution 0/Khan et al., 2014
Spastic Paraplegias 13 (SPG13, ALS2) progressive spasticity & weakness of lower limbs Autosomal Dominant 2q33.1 Deletion ALS2 4844delT Frame shift mutation & PTC 0/Gros-Louis et al., 2003