congenital disorder of glycosylation type IIh
ORPHA: 95428
Overview
congenital disorder of glycosylation type II that has material basis in a mutation of COG8 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 IIh, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilitySeizureAtaxiaFailure to thriveProtein-losing enteropathyDevelopmental regressionPoor head controlPoor speechSkeletal muscle atrophyChronic axonal neuropathyFloppy infantSevere global developmental delayFood intoleranceProgressive microcephalyAlternating esotropiaCerebellar atrophyMyoclonusHypoglycemiaVentriculomegalyElevated circulating hepatic transaminase concentrationAcute encephalopathyAtrophy/Degeneration affecting the brainstemSpontaneous hematomasProlonged prothrombin time
Classification & Codes
Orphanet Code
ORPHA:95428congenital disorder of glycosylation type IIh
| Orphanet | ORPHA:95428 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO