congenital disorder of glycosylation Iw
ORPHA: 370921
Overview
congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has material basis in homozygous mutation in the STT3A gene on chromosome 11q24
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 Iw, sourced from HPO and Orphanet clinical annotations.
MicrocephalyIntellectual disabilitySeizureGlobal developmental delayCerebellar atrophyGeneralized hypotoniaFailure to thriveFeeding difficultiesAbnormal glycosylationCryptorchidismSmall scrotumMicropenisImpaired smooth pursuit
Classification & Codes
Orphanet Code
ORPHA:370921congenital disorder of glycosylation Iw
| Orphanet | ORPHA:370921 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO