nonsyndromic intellectual disability

Mental Retardation 5 (MRD5 – SYNGAP1 gene mutations)

Recommended testing for this condition at Breda Genetics: Single gene testing based on exome sequencing (SYNGAP1 gene). If negative: upgrade to full exome data analysis. Summary SYNGAP1 gene mutations have been associated with autism or autism spectrum disorders, nonsyndromic intellectual disability, delay of psychomotor development, acquired microcephaly, and several forms of idiopathic generalized epilepsy. The condition caused

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