congenital disorder of glycosylation type IIj
ORPHA: 263501
Overview
congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of COG4 on chromosome 16q22.1
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 IIj, sourced from HPO and Orphanet clinical annotations.
Abnormal protein N-linked glycosylationAbnormal protein O-linked glycosylationMicrocephalySloping foreheadNystagmusIrritabilityAtaxiaGlobal developmental delayAbsent speechHyperreflexiaCirrhosisHepatosplenomegalyGrowth delayFailure to thrive in infancyThrombocytopeniaIntermittent diarrheaLimb hypertoniaRecurrent upper respiratory tract infectionsElevated circulating hepatic transaminase concentrationHypercholesterolemiaElevated circulating alkaline phosphatase concentrationAbnormality of the coagulation cascadeFrontotemporal cerebral atrophyGeneralized neonatal hypotoniaAxial hypotoniaComplex febrile seizureFeeding difficultiesType II transferrin isoform profileThick hairHypoplasia of the corpus callosumRecurrent infection of the gastrointestinal tractFatal liver failure in infancyNeonatal sepsis
Classification & Codes
Orphanet Code
ORPHA:263501congenital disorder of glycosylation type IIj
| Orphanet | ORPHA:263501 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO