Mesomelia-Synostoses Syndrome

Alias:
Mesomelic Dysplasia with Acral Synostoses, Verloes-David-Pfeiffer Type
Mesomelia-Synostoses Syndrome, Verloes-David-Pfeiffer Type
8q13 Microdeletion Syndrome
Verloes-David Syndrome
Monosomy 8q13
Del(8)q(13)
Chromosome 8q13 Deletion Syndrome
Mesomelic Dysplasia, Syndromic
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mesomelia-Synostoses Syndrome, also known as mesomelic dysplasia with acral synostoses, verloes-david-pfeiffer type, is related to hypertelorism and ptosis. An important gene associated with Mesomelia-Synostoses Syndrome is DEL8Q13 (Mesomelia-Synostoses Syndrome). Affiliated tissues include bone and heart, and related phenotypes are ptosis and skeletal dysplasia

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
<1/1000000
2
13
6

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
No Data Found!
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