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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
schizophrenia,hearing impairment & epilepsy schizophrenia,hearing impairment&epilepsy Autosomal Recessive 22q12.3?q13.3 & 2p24.3 Knight et al., 2008/2008