Coffin-Lowry Syndrome (CLS)

Alias:
Cls
Mental Retardation with Osteocartilaginous Abnormalities
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Coffin-Lowry Syndrome, also known as cls, is related to intellectual developmental disorder, x-linked 19 and symptomatic form of coffin-lowry syndrome in female carriers, and has symptoms including seizures An important gene associated with Coffin-Lowry Syndrome is RPS6KA3 (Ribosomal Protein S6 Kinase A3), and among its related pathways/superpathways are Innate Immune System and Apoptotic Pathways in Synovial Fibroblasts. Affiliated tissues include skeletal muscle and cerebellum, and related phenotypes are intellectual disability and frontal bossing
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLR
Newborn
1-9/100000
20
254
63

Medical Symptom

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

Gene & Mutation

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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

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PMID
Journal
Year
IF
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