congenital disorder of glycosylation type IIg
ORPHA: 263508
Overview
congenital disorder of glycosylation type II that has material basis in a mutation of COG1 on chromosome 17q25.1
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 IIg, sourced from HPO and Orphanet clinical annotations.
Pierre-Robin sequenceThin upper lip vermilionSmooth philtrumPosteriorly rotated earsShort neckRib fusionOsteopeniaAbnormal macular morphologyMild intellectual disabilityCerebellar vermis hypoplasiaFailure to thriveTalipes equinovarusAbnormal facial shapePulmonary arterial hypertensionEnlarged cisterna magnaShort long boneButterfly vertebraeIrregularity of vertebral bodiesPostnatal growth retardationRhizomeliaAtrial septal dilatationType II transferrin isoform profilePosterior rib gapNarrow mouthHigh palateProgressive microcephalyHypertelorismLong philtrumMicrognathiaWide nasal bridgeBroad neckDownslanted palpebral fissuresGeneralized hypotoniaHepatosplenomegalyModerate intellectual disabilityCoxa valgaKyphoscoliosisFlat acetabular roofVertebral segmentation defectCerebellar dysplasiaTemporal cortical atrophyMicrotiaMild global developmental delay
Classification & Codes
Orphanet Code
ORPHA:263508congenital disorder of glycosylation type IIg
| Orphanet | ORPHA:263508 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO