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GTR Home > Conditions/Phenotypes > ALG11-congenital disorder of glycosylation

ALG11-congenital disorder of glycosylation

Synonyms
ALG11-CDG; ALG11-CDG (CDG-Ip); CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; Congenital disorder of glycosylation type 1P
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A form of congenital disorders of N-linked glycosylation with characteristics of facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3). [from SNOMEDCT_US]

Available tests

29 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG1P, GT8, ALG11
    Summary: ALG11 alpha-1,2-mannosyltransferase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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