Bohring-Opitz Syndrome (BOPS)

Alias:
Bohring Syndrome
C-Like Syndrome
Opitz Trigonocephaly-Like Syndrome
Oberklaid-Danks Syndrome
Bops
Bos Syndrome
Bos
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bohring-Opitz Syndrome, also known as bohring syndrome, is related to bainbridge-ropers syndrome and buschke-ollendorff syndrome, and has symptoms including seizures and ulnar deviation of the wrist. An important gene associated with Bohring-Opitz Syndrome is ASXL1 (ASXL Transcriptional Regulator 1). Affiliated tissues include brain and bone, and related phenotypes are neurodevelopmental delay and nevus flammeus
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
<1/1000000
4
43
58

Medical Symptom

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Gene & Mutation

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References Literature

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