Disease & disorder

MAN1B1-congenital disorder of glycosylation

MONDO:0018349

MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).

Outbreak surveillance

Global reported events

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Clinical trials0
Recruiting0
Drug concepts studied0
Synonyms6
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Background context

MAN1B1-congenital disorder of glycosylation

Wikidata Q55787983 ↗
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.

Drugs being studied

Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.