Endove Syndrome, Limb-Brain Type (ENDOVESLB)

Alias:
Mesomelia of Lower Extremities with Hand, Foot, and Brain Anomalies
Endoveslb
Mlehfb
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Endove Syndrome, Limb-Brain Type, is also known as mesomelia of lower extremities with hand, foot, and brain anomalies. An important gene associated with Endove Syndrome, Limb-Brain Type is EN1 (Engrailed Homeobox 1). Affiliated tissues include brain and cerebellum, and related phenotypes are failure to thrive and hypotonia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
21
1

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
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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