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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
Seckel Syndrome 1 (SCKL1, ATR) Microcephaly, MR, Dwarfism, growth prob Autosomal Recessive 3q23 - ATR - - - Goodship et al., 2000/2000
Seckel Syndrome 1 (SCKL1, ATR) Microcephaly,MR,Dwarfism,growth probl Autosomal Recessive 3q23 Splice site ATR 2101A>G ODriscoll et al., 2003/2003