CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 300934
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias 250 / 7739
2
 (HPO:0000347) Micrognathia 426 / 7739
3
 (HPO:0000252) Microcephaly 832 / 7739
4
 (HPO:0001250) Seizures 1245 / 7739
5
 (HPO:0001263) Global developmental delay 853 / 7739
6
 (HPO:0003642) Type I transferrin isoform profile 16 / 7739
7
 (HPO:0001252) Muscular hypotonia 990 / 7739
8
 (HPO:0030084) Clinodactyly 90 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: