Fibrosis of Extraocular Muscles, Congenital, 2 (CFEOM2)

Alias:
Cfeom2
Fibrosis of Extraocular Muscles, Congenital, Autosomal Recessive
Congenital Fibrosis of Extraocular Muscles Autosomal Recessive
Fibrosis, Extraocular Muscles, Congenital, Type 2
Congenital Fibrosis of the Extraocular Muscles 2
Exotropic Strabismus Fixus
Feom2 Locus
Feom2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Fibrosis of Extraocular Muscles, Congenital, 2, also known as cfeom2, is related to congenital fibrosis of the extraocular muscles and tukel syndrome, and has symptoms including ophthalmoplegia An important gene associated with Fibrosis of Extraocular Muscles, Congenital, 2 is PHOX2A (Paired Like Homeobox 2A). Affiliated tissues include eye, and related phenotypes are visual impairment and amblyopia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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2
15
2

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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