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COG6-CGD
Disease definition
A rare congenital disorder of glycosylation characterized by neonatal onset of global developmental delay, hypotonia, failure to thrive, hematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis, or cirrhosis), and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis, and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy, and enlarged ventricles.
ORPHA:464443
Classification level: Disorder- Synonym(s):
- CDG syndrome type IIL
- CDG-IIL
- CDG2L
- Congenital disorder of glycosylation type 2l
- Congenital disorder of glycosylation type IIL
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Neonatal
- ICD-10: E77.8
- OMIM: 614576
- UMLS: C3553230
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)
Detailed information
Disease review articles
- Clinical genetics review
- English (2017) - GeneReviews
produced/endorsed by ERN(s) 
produced/endorsed by FSMR(s)Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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