has characteristic has characteristic has material basis in germline mutation in PIGM congenital hematological disorder hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency https://rarediseases.info.nih.gov/diseases/9965/hypercoagulability-syndrome-due-to-glycosylphosphatidylinositol-deficiency https://www.malacards.org/card/glycosylphosphatidylinositol_biosynthesis_defect_1 https://www.malacards.org/card/hypercoagulability_syndrome_due_to_glycosylphosphatidylinositol_deficiency icd11.foundation:1811042875 NANDO:1200983 GARD:0009965 MONDO:0012465 The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI. UMLS:C5201145 PIGM-CDG congenital disorder of glycosylation due to PIGM deficiency MEDGEN:1684821 OMIM:610293 SCTID:724344004 Orphanet:83639 GPID inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation inherited blood coagulation disorder point_mutation