congenital disorder of glycosylation type IIi
ORPHA: 263487
Overview
congenital disorder of glycosylation type II that has material basis in a mutation of COG5 on chromosome 7q22.3
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 IIi, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentMotor delayFloppy infantMicrocephalyPosteriorly rotated earsLow-set earsProminent noseShort statureSevere intellectual disabilityNeurogenic bladderUrinary incontinenceCryptorchidismMicropenisHigh palateRetrognathiaSensorineural hearing impairmentWide nasal bridgeShort neckStrabismusAbnormality of the frontal hairlineAutistic behaviorSeizureMild intellectual disabilityCerebellar atrophyBrisk reflexesHepatosplenomegalyIntrauterine growth retardationOligohydramniosTruncal ataxiaHepatomegalyModerate intellectual disabilityDiffuse cerebral atrophyGenu valgumElevated circulating hepatic transaminase concentrationAbnormal isoelectric focusing of serum transferrinLateral ventricle dilatationAtrophy/Degeneration affecting the brainstemJoint contracture of the handGastrostomy tube feeding in infancyBrain atrophyDelayed myelinationCerebral white matter atrophyFinger clinodactylyCamptodactyly of fingerPremature skin wrinklingCerebral visual impairment
Classification & Codes
Orphanet Code
ORPHA:263487congenital disorder of glycosylation type IIi
| Orphanet | ORPHA:263487 |
| Treatments | 0 drug(s) |
| Symptoms on record | 46 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO