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. 2023 May 15;31(8):895–904. doi: 10.1038/s41431-023-01379-9

Table 3.

Summary of the genotype–phenotype correlations in patients with a MYT1L microduplication.

Clinical phenotype Genomic composition of the microduplication and position within MYT1L
Intragenic* 5′ end multiexona 3′ end multiexona multigenicb microduplication Fisher-Freeman-Halton Exact test (p value)
Schizophrenia 0% (0/10) 0% (0/10) 0% (0/10) 100% (10/10) 0.003c
ID/DD 9% (1/11) 55% (6/11) 0% (0/11) 36% (4/11)
ASD 37% (3/8) 0% (0/8) 0% (0/8) 63% (5/8)
No neuropsychiatric phenotype 27% (3/11) 9% (1/11) 18% (2/11) 46% (5/11)
Prenatal cases 0% (0/2) 0% (0/2) 0% (0/2) 100% (2/2)
All 17% (7/42) 17% (7/42) 4% (2/42) 62% (26/42)

aMicroduplications involving only MYT1L gene.

bMYT1L microduplications extending to neighboring genes.

cSignificative p value.