Saul-Wilson Syndrome (SWILS)

Alias:
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Microcephalic Osteodysplastic Dysplasia
Swils
Microcephalic Osteodysplastic Dysplasia Saul Wilson Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Saul-Wilson Syndrome, also known as microcephalic osteodysplastic dysplasia, saul-wilson type, is related to osteochondrodysplasia and clubfoot. An important gene associated with Saul-Wilson Syndrome is COG4 (Component Of Oligomeric Golgi Complex 4), and among its related pathways/superpathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. Affiliated tissues include bone and eye, and related phenotypes are frontal bossing and cataract
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
<1/1000000
16
69
9

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
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IF
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