congenital disorder of glycosylation type IIm
ORPHA: 356961
Overview
congenital disorder of glycosylation type II that has material basis in an X-linked dominant mutation of SLC35A2 on chromosome Xp11.23
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 IIm, sourced from HPO and Orphanet clinical annotations.
Abnormality of the nervous systemAbnormality of the skeletal systemIntellectual disabilitySeizureGlobal developmental delayHypsarrhythmiaFloppy infantMicrocephalyAbnormality of the eyeAbnormality of the skinAbnormality of the handCerebellar atrophyFailure to thrive in infancyAbnormal facial shapeAbnormality of the respiratory systemAbnormal cerebral white matter morphologyInability to walkScoliosisAbnormality of the immune systemElevated circulating hepatic transaminase concentrationShort statureAxial hypotoniaSevere intellectual disabilityFeeding difficultiesAbnormal glycosylationDecreased galactosylation of N-linked protein glycosylationDecreased sialylation of O-linked protein glycosylationDelayed myelinationInfantile spasmsElevated brain N-acetyl aspartate level by MRSNasogastric tube feedingAplasia/hypoplasia involving bones of the extremitiesCerebral visual impairmentSensorineural hearing impairmentThickened nuchal skin foldStrabismusExotropiaPrecocious pubertyHypopigmentation of the skinSpastic tetraparesisCraniosynostosisIntrauterine growth retardationAbnormal heart morphologyTalipes equinovarusMetatarsus adductusCerebral atrophyHypoplasia of the corpus callosumCoxa valgaLimb joint contractureInverted nipplesAtrophy/Degeneration affecting the brainstemParoxysmal involuntary eye movementsEEG with focal epileptiform dischargesAbnormal long bone morphologyCerebral white matter atrophyAnisometropiaShort corpus callosumOsteopeniaDandy-Walker malformationJoint hypermobilityTetralogy of FallotGastroesophageal refluxAbnormal midbrain morphologyCortical dysplasiaElevated circulating thyroid-stimulating hormone concentrationShort tibiaLateral ventricle dilatationTransient nephrotic syndromeAbnormal renal morphologyIncreased circulating thyroglobulin concentrationHypoplastic hippocampusHip subluxationCamptodactyly of finger
Classification & Codes
Orphanet Code
ORPHA:356961congenital disorder of glycosylation type IIm
| Orphanet | ORPHA:356961 |
| Treatments | 0 drug(s) |
| Symptoms on record | 73 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO