Congenital Disorder of Glycosylation, Type Iy (CDG1Y)

Alias:
Cdg1y
Congenital Disorder of Glycosylation Type Iy
Cdg-Iy
Carbohydrate Deficient Glycoprotein Syndrome Type Iy
Congenital Disorder of Glycosylation Type 1y
Congenital Disorder of Glycosylation 1y
Cdg Syndrome Type Iy
Ssr4-Cdg
Cdg Iy
Cdgiy
Glycosylation, Congenital Disorder of, Type Iy
Ssr4-Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation Iy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Disorder of Glycosylation, Type Iy, also known as cdg1y, is related to congenital disorder of glycosylation, type in and microcephaly. An important gene associated with Congenital Disorder of Glycosylation, Type Iy is SSR4 (Signal Sequence Receptor Subunit 4). Affiliated tissues include eye and kidney, and related phenotypes are intellectual disability and global developmental delay
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Newborn
<1/1000000
1
2
2

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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