Spondylometaphyseal Dysplasia, X-Linked (SMDXL)

Alias:
Spondylometaphyseal Dysplasia, Golden Type
X-Linked Spondylometaphyseal Dysplasia
Spondylometaphyseal Dysplasia, Richmond Type
Smdxl
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spondylometaphyseal Dysplasia, X-Linked, also known as spondylometaphyseal dysplasia, golden type, is related to spondyloepimetaphyseal dysplasia, strudwick type and hypomyelinating leukodystrophy. Affiliated tissues include bone, and related phenotypes are nystagmus and kyphosis

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
XL
XLR
No data available Phase
<1/1000000
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Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
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
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