congenital disorder of glycosylation Ir
ORPHA: 300536
Overview
congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has material basis in compound heterozygous mutation in the DDOST gene on chromosome 1p36
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 Ir, sourced from HPO and Orphanet clinical annotations.
EsotropiaOsteopeniaSeizureGeneralized hypotoniaTremorHepatic steatosisFailure to thriveConstipationGastroesophageal refluxAbnormal speech patternElevated circulating hepatic transaminase concentrationAbnormality of the coagulation cascadeCNS hypomyelinationType I transferrin isoform profileShort statureAccelerated skeletal maturationOromotor apraxiaNeurodevelopmental delayRecurrent ear infectionsDry skinLipodystrophyPrimary hypothyroidismNephrotic range proteinuria
Classification & Codes
Orphanet Code
ORPHA:300536congenital disorder of glycosylation Ir
| Orphanet | ORPHA:300536 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO