Craniofacial Dyssynostosis with Short Stature (BLSS)

Alias:
Bilateral Lambdoid and Sagittal Synostosis
Blss
Non-Syndromic Sagittal and Bilateral Lambdoid Synostosis
Non-Syndromic Bilambdoid and Sagittal Craniosynostosis
Isolated Sagittal and Bilambdoid Craniosynostosis
Craniofacial Dyssynostosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Craniofacial Dyssynostosis with Short Stature, also known as bilateral lambdoid and sagittal synostosis, is related to synostosis and craniosynostosis, and has symptoms including seizures Affiliated tissues include bone and kidney, and related phenotypes are macrocephaly and frontal bossing

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
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--
8

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

Title
PMID
Journal
Year
IF
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