Bdv Syndrome (BDVS)

Alias:
Blakemore-Durmaz-Vasileiou Syndrome
Intellectual Developmental Disorder and Hypogonadotropic Hypogonadism
Iddhh
Bdvs
Blakemore-Durmaz-Vasileiou Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bdv Syndrome, also known as blakemore-durmaz-vasileiou syndrome, is related to cpe-related prader-willi-like syndrome and hypogonadotropic hypogonadism 7 with or without anosmia. An important gene associated with Bdv Syndrome is CPE (Carboxypeptidase E). Affiliated tissues include thyroid and smooth muscle, and related phenotypes are intellectual disability and type ii diabetes mellitus
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
9
3

Medical Symptom

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Categorization
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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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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