Condition: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15


rs1010907740 in GPAA1 gene and GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 PMID 29100095 2017 Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.