Blepharophimosis-Intellectual Disability Syndrome (BMRS)

Alias:
Bmrs
Blepharophimosis - Intellectual Disability Syndrome
Blepharophimosis Intellectual Disability Syndromes
Blepharophimosis Syndrome Ohdo Type
Young Simpson Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Blepharophimosis-Intellectual Disability Syndrome, also known as bmrs, is related to ohdo syndrome, sbbys variant and blepharophimosis with facial and genital anomalies and impaired intellectual development, and has symptoms including seizures An important gene associated with Blepharophimosis-Intellectual Disability Syndrome is UBE3B (Ubiquitin Protein Ligase E3B). Affiliated tissues include eye and thyroid.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
<1/1000000
2
11
1

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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PMID
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IF
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