congenital disorder of glycosylation type IIq
ORPHA: 435934
Overview
congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of COG2 on chromosome 1q42.2
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 IIq, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityDecreased liver functionAbnormal facial shapeHypoplasia of the corpus callosumPsychomotor deteriorationDiffuse cerebral atrophySpastic tetraplegiaAbnormality of the coagulation cascadeSecondary microcephalyGeneralized tonic seizureDecreased circulating ceruloplasmin concentrationDecreased circulating copper concentrationSmall pituitary gland
Classification & Codes
Orphanet Code
ORPHA:435934congenital disorder of glycosylation type IIq
| Orphanet | ORPHA:435934 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO