Table 1 Four of the 172 recessive genes in the areas of homozygosity are associated with phenotypes similar to our patient
Gene | Associated syndrome or phenotype gene |
|---|---|
ARID1A gene at 1p35.3 | Coffin–Siris syndrome |
PIGV at 1p36.11 | Hyperphosphatasia with mental retardation |
POC1A at 3p21.2 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome |
CDK5RAP2 at 9q33.2 | Microcephaly 3 |