Weill-Marchesani Syndrome 2 (WMS2)

Alias:
Weill-Marchesani Syndrome 2, Dominant
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome
Weill-Marchesani Syndrome, Autosomal Dominant
Spherophakia-Brachymorphia Syndrome
Gemss
Wms2
Weill-Marchesani Syndrome, Autosomal Recessive
Autosomal Dominant Weill-Marchesani Syndrome
Mesodermal Dysmorphodystrophy, Congenital
Congenital Mesodermal Dysmorphodystrophy
Weill-Marchesani Syndrome, Type 2
Weill-Marchesani Syndrome
Gemss Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Weill-Marchesani Syndrome 2, also known as glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, is related to weill-marchesani syndrome and weill-marchesani syndrome 1, and has symptoms including joint stiffness An important gene associated with Weill-Marchesani Syndrome 2 is FBN1 (Fibrillin 1). Affiliated tissues include eye and skin, and related phenotypes are high palate and delayed skeletal maturation
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
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1
19
7

Medical Symptom

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Description
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No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
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Publications
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References Literature

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