congenital disorder of glycosylation type IIe
ORPHA: 79333
Overview
congenital disorder of glycosylation type II that has material basis in a mutation of COG7 on chromosome 16p12.2
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 IIe, sourced from HPO and Orphanet clinical annotations.
HypotoniaFailure to thriveRecurrent feverRecurrent infectionsElevated circulating hepatic transaminase concentrationPostnatal growth retardationFeeding difficultiesType II transferrin isoform profileBrain atrophyAbnormality of the kidneyProgressive microcephalyJaundiceAbnormal finger morphologySeizureHyporeflexiaAreflexiaSmall for gestational ageAbnormal heart morphologyAbnormal facial shapeDiarrheaHepatomegalyElevated circulating creatine kinase concentrationExcessive wrinkled skinPrimary microcephalyNarrow mouthRetrognathiaMicrognathiaShort neckAdducted thumbCerebellar atrophyHepatosplenomegalySubcortical cerebral atrophyLong fingers
Classification & Codes
Orphanet Code
ORPHA:79333congenital disorder of glycosylation type IIe
| Orphanet | ORPHA:79333 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO