congenital disorder of glycosylation type IIf
ORPHA: 238459
Overview
congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of SLC35A1 on chromosome 6q15
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with congenital disorder of glycosylation type IIf, sourced from HPO and Orphanet clinical annotations.
ThrombocytopeniaDecreased total neutrophil countAbnormal bleedingGiant plateletsSubcutaneous hemorrhagePneumoniaRespiratory distressProlonged bleeding timeAbnormal platelet granulesAbnormal megakaryocyte morphologyHypoxemiaPulmonary hemorrhageCellulitis
Classification & Codes
Orphanet Code
ORPHA:238459congenital disorder of glycosylation type IIf
| Orphanet | ORPHA:238459 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO