congenital disorder of glycosylation Ip
ORPHA: 280071
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 Ip, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilitySeizureGlobal developmental delayAbnormal isoelectric focusing of serum transferrinType I transferrin isoform profileFloppy infantReduced social responsivenessMicrocephalyHearing impairmentAbnormality of visionHypertoniaHyperreflexiaAbnormal facial shapeFeeding difficultiesRetrognathiaLong philtrumHigh foreheadStrabismusDry skinAtaxiaFailure to thriveCerebral atrophyOpisthotonusGray matter heterotopiaHypokinesiaAbnormal cerebral white matter morphologyLimb hypertoniaEpisodic vomitingScoliosisElevated circulating hepatic transaminase concentrationInverted nipplesTemperature instabilityDecreased corneal reflexAxial hypotoniaAbnormal adipose tissue morphologyEEG with burst suppressionAbnormal skeletal morphologyDelayed myelinationWidened subarachnoid spaceCerebral white matter atrophy
Classification & Codes
Orphanet Code
ORPHA:280071congenital disorder of glycosylation Ip
| Orphanet | ORPHA:280071 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO