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Robin Sequence with Distinctive Facial Appearance and Brachydactyly

Alias:
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Robin Sequence with Distinctive Facial Appearance and Brachydactyly, is also known as intellectual disability-brachydactyly-pierre robin syndrome. Affiliated tissues include bone and tongue, and related phenotypes are global developmental delay and hypertelorism
Related ID：
MALACARDS：RBN019
OMIM：608670

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
--
--
2
RBN019

Medical Symptom

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Categorization
Description
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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
Journal
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IF
No Data Found!
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