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Table 1 Four of the 172 recessive genes in the areas of homozygosity are associated with phenotypes similar to our patient

From: Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report

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