congenital disorder of glycosylation type IIb
ORPHA: 79330
Overview
congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of MOGS on chromosome 2p13.1
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 IIb, sourced from HPO and Orphanet clinical annotations.
RetrognathiaWide noseLong eyelashesHirsutismSeizureAbnormal facial shapeDecreased circulating IgA concentrationDecreased circulating total IgMExternal genital hypoplasiaDecreased circulating immunoglobulin concentrationFloppy infantShort palpebral fissureHydrocele testisHigh palateProminent occiputSensorineural hearing impairmentOptic atrophyAbnormality of visual evoked potentialsHypothyroidismEdemaDystoniaHepatosplenomegalyPolyhydramniosAlopeciaAtrial septal defectCardiomegalyLeft ventricular hypertrophyThrombocytopeniaHypoplasia of the corpus callosumRespiratory distressApneaHepatomegalyFair hairHypoventilationThoracic scoliosisDecreased circulating IgG concentrationAbsent brainstem auditory responsesGeneralized edemaOverlapping fingersChronic constipationBone fractureInappropriate antidiuretic hormone secretionNasogastric tube feedingPulmonary edema
Classification & Codes
Orphanet Code
ORPHA:79330congenital disorder of glycosylation type IIb
| Orphanet | ORPHA:79330 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO