congenital disorder of glycosylation Ih
ORPHA: 79325
Overview
human disease
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 Ih, sourced from HPO and Orphanet clinical annotations.
Abnormality of the nervous systemHypotoniaAbnormal facial shapeAbnormality of the eyeCataractEdemaSeizureGlobal developmental delayAscitesPremature birthHydrops fetalisThrombocytopeniaHyponatremiaElevated circulating hepatic transaminase concentrationAbnormality of the coagulation cascadeType I transferrin isoform profileAbnormality of the gastrointestinal tractAbnormal skin morphologyMacroglossiaHypertelorismLow-set earsRetinopathyNystagmusOptic atrophyCutis laxaAbnormality of subcutaneous fat tissueBrachydactylyAtaxiaFailure to thriveIntrauterine growth retardationSmall for gestational ageOligohydramniosTalipes equinovarusAnemiaReduced factor XI activityReduced antithrombin III activityVomitingDiarrheaHypoplasia of the corpus callosumVentriculomegalyCerebral cortical atrophyLeukoencephalopathyLeukodystrophyInverted nipplesReduced protein C activityFeeding difficultiesCamptodactylyPremature skin wrinkling
Classification & Codes
Orphanet Code
ORPHA:79325congenital disorder of glycosylation Ih
| Orphanet | ORPHA:79325 |
| Treatments | 0 drug(s) |
| Symptoms on record | 48 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO