Mutation Type Nucleotide Change AA Change Number of Patients Phenotype Category Reference gene deletion 7 congenital, Rett-like   missense 610C>G (Leu204Val) 2 ND (age less than 4 years), congenital   early truncating 136C>T Q46X 1 congenital   early truncating 1414_1417del Ser472Ilefs*15 1 ND (age less than 4 years)   early truncating 208C>T Gln70* 1 ND (age less than 4 years)   early truncating 256dup Gln86Profs*35 1 ND (age less than 4 years)   early truncating 460dup Glu154fs*301 1 ND (age less than 4 years)   early truncating 460dupG Glu154Glyfs*301 1 congenital   early truncating 1200C>G Tyr400X 1 classic Rett missense 688C>T Arg230Cys 1 congenital   missense 708C>A Asn236Lys 1 ND (age less than 4 years)   late truncating 738C>A Y246X 1 congenital   early truncating 765G>A W255X 1 congenital early truncating 924G>A Trp.308X 1 congenital late truncating 969delC S323fsX325 1 congenital missense 681C>G N227K 1 congenital   gene duplication 0