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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
Neurodevelopmental Syndrome (HACE1) ID, spasticity and abnormal gait Autosomal Recessive 6q16.3 Nonsense HACE1 655C>T Arg219* Premature Termination Hollstein et al., 2015/2015