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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
Microcephaly (KIF14) Reduced cerebral cortex with ID Autosomal Recessive 1q32.1 Deletion KIF14 2482delTTG Val827de Amino Acid Deletion 0/Moawia et al., 2017
Microcephaly (KIF14) c cortex with ID Autosomal Recessive 1q32.1 Nonsense KIF14 263T>A Leu88* PTC 0/Moawia et al., 2017