Ulnar/fibular Ray Defect and Brachydactyly

Alias:
Ulnar/fibula Ray Defect-Brachydactyly Syndrome
Morava-Mehes Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ulnar/fibular Ray Defect and Brachydactyly, also known as ulnar/fibula ray defect-brachydactyly syndrome, is related to brachydactyly, type e1 and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Ulnar/fibular Ray Defect and Brachydactyly is RP1L1 (RP1 Like 1). Affiliated tissues include bone and breast, and related phenotypes are growth delay and short stature

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
1
4
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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Name
MGI
Related Gene
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Publications
No data available

References Literature

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