Borjeson-Forssman-Lehmann Syndrome (BFLS)

Alias:
Bfls
Borj
Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome
Borjeson Syndrome
Mrxsbfl
Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type
Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type
Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome
Mental Retardation, Epilepsy, and Endocrine Disorders
Mental Retardation, Epilepsy, and Endocrine Disorder
Mental Deficiency-Epilepsy- Endocrine Disorders
Boerjeson-Forssman-Lehmann Syndrome
Borjeson-Forssman Syndrome
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Borjeson-Forssman-Lehmann Syndrome, also known as bfls, is related to coffin-siris syndrome 1 and microcephaly, and has symptoms including seizures An important gene associated with Borjeson-Forssman-Lehmann Syndrome is PHF6 (PHD Finger Protein 6), and among its related pathways/superpathways are Chromatin organization and Organelle biogenesis and maintenance. Affiliated tissues include eye and prostate, and related phenotypes are intellectual disability and hypotonia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Newborn
<1/1000000
18
100
26

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
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top