Terminology Service for NFDI4Health
Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 (disorder)
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http://snomed.info/id/733450008
A form of congenital disorders of N-linked glycosylation with characteristics of 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).
Term info
Label
Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 (disorder)
Synonyms
- Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1
- Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
- Congenital disorder of glycosylation type II due to MAN1B1 deficiency
- MAN1B1-CDG - mannosidase alpha class 1B member 1 deficiency congenital disorder of glycosylation
Term relations
Subclass of:
- Autosomal recessive hereditary disorder (disorder)
- Carbohydrate-deficient glycoprotein syndrome type II (disorder)
- Autosomal recessive hereditary disorder (disorder) and Carbohydrate-deficient glycoprotein syndrome type II (disorder) and Role group (attribute) some (Occurrence (attribute) some Congenital (qualifier value))