DENND5A-related developmental disease has been observed in both homozygous and compound heterozygous individuals harboring loss-of-function variants. Any combination of frameshift, missense, nonsense, and intronic splice site variants have been observed. Homozygous individuals tend to have poorer prognostic outcomes compared to compound heterozygous individuals, but severe cases have been identified among compound heterozygotes as well. No genotype-phenotype correlation has yet been identified.
DENND5A