congenital disorder of glycosylation If
ORPHA: 79323
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 If, sourced from HPO and Orphanet clinical annotations.
Type I transferrin isoform profileSevere intellectual disabilityAbnormal circulating enzyme concentration or activityFloppy infantThin vermilion borderParietal bossingWide anterior fontanelOptic atrophyRenal cortical cystsDecreased response to growth hormone stimulation testEczematoid dermatitisSeizureHypertoniaVentriculomegalyHypsarrhythmiaElevated circulating creatine kinase concentrationProminent frontal sinusesUndetectable visual evoked potentialsIchthyosisAbsence of acoustic reflexFeeding difficultiesWidened subarachnoid spaceErythematous plaqueDecreased circulating serum insulin-like growth factor 1 concentrationScaling skinNasogastric tube feeding
Classification & Codes
Orphanet Code
ORPHA:79323congenital disorder of glycosylation If
| Orphanet | ORPHA:79323 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO