Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (OORS) is a type of inherited glycosylphosphatidylinositol deficiency disorders (IGDs), a subgroup of congenital disorders of glycosylation. Only two unrelated patients with PIGF variants have been described, both from consanguineous parents. The parents were found to be heterozygous carriers confirming that the syndrome has an autosomal recessive mode of inheritance. The patients had overlapping phenotypes with DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures) without deafness. The phenotypes include onychodystrophy, osteodystrophy, impaired intellectual development and seizures or tonic posturing.
PIGF