Weill-Marchesani Syndrome 4 (WMS4)

Alias:
Weill-Marchesani 4 Syndrome, Recessive
Weill-Marchesani-Like Syndrome
Wms4
Wmsl
Ichthyosis-Short Stature-Brachydactyly-Microspherophakia Syndrome
15q26.3 Microdeletion Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Weill-Marchesani Syndrome 4, also known as weill-marchesani 4 syndrome, recessive, is related to weill-marchesani syndrome and brachydactyly. An important gene associated with Weill-Marchesani Syndrome 4 is ADAMTS17 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 17). Affiliated tissues include skin and eye, and related phenotypes are high myopia and shallow anterior chamber
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
2
6
4

Medical Symptom

#
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

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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