Log In|Sign Up
中文Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine (GDPAG)
Alias:
Glutaminase Deficiency with Impaired Intellectual Development and Progressive Ataxia
Gdpag
Favorite
全球发育迟缓、进行性共济失调和高谷氨酰胺，也称为智力发育障碍和进行性共济失调的谷氨酰胺缺乏症，与婴儿白内障、皮肤异常、谷氨酸过多和智力发育障碍有关。与全球发育迟缓、进行性共济失调和高谷氨酰胺有关的重要基因是GLS（谷氨酰胺酶）。相关组织包括大脑，相关表型为全球发育迟缓和语言发育延迟
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
