Log In|Sign Up
ENCongenital Disorder of Glycosylation, Type Iq (CDG1Q)
Alias:
Cdg1q
Congenital Disorder of Glycosylation Type Iq
Congenital Disorder of Glycosylation 1q
Srd5a3-Cdg
Cdg Iq
Cdg-Iq
Cdgiq
Coloboma, Ocular, with Ichthyosis, Brain Malformations, and Endocrine Abnormalities
Coloboma, Ocular, and Ichthyosis, Brain Malformations, and Endocrine Abnormalities
Ocular Coloboma Ichthyosis Brain Malformations and Endocrine Abnormalities
Glycosylation, Congenital Disorder of, Type Iq
Congenital Disorder of Glycosylation Type 1q
Srd5a3-Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation Iq
Cdg Syndrome Type Iq
Favorite
Congenital Disorder of Glycosylation, Type Iq, also known as cdg1q, is related to kahrizi syndrome and srd5a3-congenital disorder of glycosylation. An important gene associated with Congenital Disorder of Glycosylation, Type Iq is SRD5A3 (Steroid 5 Alpha-Reductase 3). Affiliated tissues include skin and brain, 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
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
