Tukel Syndrome

Alias:
Congenital Fibrosis of the Extraocular Muscles 4
Fibrosis of Extraocular Muscles, Congenital, with Ulnar Hand Anomalies
Fibrosis of Extraocular Muscles, Congenital, 4
Congenital Fibrosis of the Extraocular Muscles
Cfeom-U
Cfeom4
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Tukel Syndrome, also known as congenital fibrosis of the extraocular muscles 4, is related to fibrosis of extraocular muscles, congenital, 1 and congenital fibrosis of the extraocular muscles, and has symptoms including ophthalmoplegia An important gene associated with Tukel Syndrome is TUKLS (Tukel Syndrome), and among its related pathways/superpathways is Intraflagellar transport. Affiliated tissues include eye and bone, and related phenotypes are ptosis and carpal synostosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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6
30
1

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
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Publications
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References Literature

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