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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
Spastic Paralysis (IAHSP2, ALS2) Neurodegenerative disorder, IAHSP Autosomal Recessive 2q33.1 Missense ALS2 194T>C Phe65Se Amino Acid Substitution Daud et al., 2016/2016
Spastic Paralysis (IAHSP2, ALS2) Neurodegenerative disorder, IAHSP Autosomal Recessive 2q33.1 Deletion ALS2 2998delA Ile1000* Pre-mature Termination Daud et al., 2016/2016