CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx

General Information (adopted from Orphanet):

Synonyms, Signs: CDG-x
Number of Symptoms 5
OrphanetNr:
OMIM Id: 212067
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012469) Infantile spasms 18 / 7739
2
(HPO:0001000) Abnormality of skin pigmentation 105 / 7739
3
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Carbohydrate moiety deficiency of secretory glycoproteins, lysosomal enzymes, and probably membrane glycoproteins 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital disorders of glycosylation (CDGs) are divided into 2 main groups: type I CDGs (see, e.g., 212065) comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type ...
Clinical Description OMIM Stibler et al. (1993) described 2 unrelated Swedish and German girls with perinatal hypotonia, mild dystrophic appearance, brisk reflexes, optic atrophy, infantile spasms, and pigmentary skin changes. Brain imaging showed central and cortical atrophy and generalized demyelination. One ...