MAN1B1-CDG
ORPHA: 397941
Overview
(9q34.3).
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 MAN1B1-CDG, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityGlobal developmental delayAbnormal facial shapeFloppy infantHypertelorismLow-set earsMacrotiaDownslanted palpebral fissuresMild intellectual disabilityTruncal obesityPoor speechType II transferrin isoform profileAbnormal brain morphologyThin upper lip vermilionDolichocephalyMalar flatteningPointed chinSmooth philtrumShort philtrumShort chinWide nasal bridgeWide noseProminent noseShort neckHypermetropiaAtypical behaviorAutismPectus carinatumCutis laxaSeizureCerebellar hypoplasiaJoint hypermobilityFrontal bossingBroad-based gaitModerate intellectual disabilityPolyphagiaInverted nipplesLong eyebrowsUnderdeveloped nasolabial foldAbnormal position of hair whorlSevere intellectual disabilitySparse eyebrowLong faceEpicanthusLong eyelashesResting tremorClinodactyly of the 5th finger2-3 toe syndactylyFlat occiputPeriventricular heterotopiaMultiple cafe-au-lait spotsThick vermilion borderEclabion
Classification & Codes
Orphanet Code
ORPHA:397941MAN1B1-CDG
| Orphanet | ORPHA:397941 |
| Treatments | 0 drug(s) |
| Symptoms on record | 53 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO