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ALG9-CDG
Disease definition
A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).
ORPHA:79328
Classification level: Disorder- Synonym(s):
- CDG syndrome type IL
- CDG-IL
- CDG1L
- Carbohydrate deficient glycoprotein syndrome type IL
- Congenital disorder of glycosylation type 1L
- Mannosyltransferase 7-9 deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E77.8
- ICD-11: 5C54.0
- OMIM: 263210 608776
- UMLS: C2931006
- MeSH: -
- GARD: 9839
- MedDRA: -
A summary on this disease is available in Español (2016) Italiano (2016) Nederlands (2016) Deutsch (2006) Français (2006)
Detailed information
Disease review articles
- Clinical genetics review
- English (2017) - GeneReviews


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.