Cat Eye Syndrome (CES)

Alias:
Cat-Eye Syndrome
Ces
Chromosome 22 Partial Tetrasomy
Opitz Trigonocephaly Syndrome
Schmid-Fraccaro Syndrome
Inv Dup(22)(q11)
Cess
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cat Eye Syndrome, also known as cat-eye syndrome, is related to cauda equina syndrome and congenital esophageal stenosis, and has symptoms including seizures An important gene associated with Cat Eye Syndrome is CECR (Cat Eye Syndrome Chromosome Region). Affiliated tissues include eye and heart, and related phenotypes are anal atresia and preauricular skin tag

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
1-9/100000
5
18
45

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

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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
No Data Found!
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