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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-Primary Hereditary[MCPH](ASPM) ID,OFC of the head Autosomal Recessive 1q31.3 Nonsense Mutation ASPM 7543C>T Arg2515Ter Amino acid substitution and PTC 0/Khan A et.al.,,,2018