congenital disorder of glycosylation Il
ORPHA: 79328
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 Il, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsIntellectual disabilitySeizureGlobal developmental delayProgressive microcephalyHypotoniaAbnormal heart morphologyPericardial effusionHepatomegalySkeletal dysplasiaInverted nipplesEnlarged kidneyHydronephrosisWide mouthBifid uvulaThin upper lip vermilionBrachycephalyWide anterior fontanelDelayed cranial suture closureMicroretrognathiaHypertelorismSmooth philtrumLong philtrumMicrognathiaLow-set earsUnderdeveloped nasal alaeConvex nasal ridgeShort neckTorticollisThickened nuchal skin foldTelecanthusProptosisEsotropiaShallow orbitsIrritabilityBicornuate uterusHypertrichosisHitchhiker thumbCerebellar atrophyHyperreflexiaPeriportal fibrosisHepatic cystsOmphaloceleDecreased fetal movementOligohydramniosVentricular septal defectAtrial septal defectTalipes equinovarusHydrops fetalisFrontal bossingVomitingDiarrheaGastroesophageal refluxCerebral atrophyLower limb spasticityPulmonary hypoplasiaAsthmaAbnormal lung lobationLow posterior hairlineLarge fleshy earsHypoplastic nipplesFlared metaphysisShort long boneShort noseNarrow greater sciatic notchRight ventricular dilatationTricuspid regurgitationDepressed nasal bridgeHypoplasia of the bladderProminent metopic ridgeAplasia cutis congenita of scalpHypoplasia of the ovaryAbnormal renal artery morphologyRhizomeliaHypoplasia of the musculatureLipodystrophyUlnar deviation of the handLow insertion of columellaAbnormal left ventricular outflow tract morphologyVillous atrophyAbnormal bone ossificationDelayed myelinationWidened subarachnoid spaceInappropriate cryingUreteral hypoplasiaBroad ischia
Classification & Codes
Orphanet Code
ORPHA:79328congenital disorder of glycosylation Il
| Orphanet | ORPHA:79328 |
| Treatments | 0 drug(s) |
| Symptoms on record | 86 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO