congenital disorder of glycosylation type IId
ORPHA: 79332
Overview
congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of B4GALT1 on chromosome 9p21.1
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 IId, sourced from HPO and Orphanet clinical annotations.
Axial hypotoniaElevated circulating creatine kinase concentrationFloppy infantType II transferrin isoform profileAbnormal circulating enzyme concentration or activityLow-set earsWide nasal bridgeMyopiaReduced antithrombin III activityAbnormal facial shapeElevated circulating hepatic transaminase concentrationAbnormality of the coagulation cascadeDecreased LDL cholesterol concentrationProlonged partial thromboplastin timeReduced protein S activityReduced protein C activityThin upper lip vermilionHydrocephalusHypertelorismLong philtrumHypothyroidismEdemaDandy-Walker malformationCerebellar hypoplasiaSmall for gestational agePremature birthSplenomegalyAbnormal bleedingDiarrheaHepatomegalyInverted nipplesRedundant neck skinHigh myopiaInflammatory abnormality of the skin
Classification & Codes
Orphanet Code
ORPHA:79332congenital disorder of glycosylation type IId
| Orphanet | ORPHA:79332 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO