Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech

Alias:
Sed-Bds
Tattoo Dysplasia
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Fantasy Island Syndrome
Sed-Brachydactyly and Distinctive Speech
Spondyloepiphyseal Dysplasia, Cantu Type
Tatoo Dysplasia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech, also known as sed-bds, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and brachydactyly. Affiliated tissues include bone and lung, and related phenotypes are short neck and delayed skeletal maturation
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
--
--
2

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

Name
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
Year
IF
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