Ulnar Hypoplasia

Alias:
Upper Limb Mesomelic Dysplasia
Fryns-Hofkens-Fabry Syndrome
Ulna Hypoplasia
Hypoplasia of the Ulna
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ulnar Hypoplasia, also known as upper limb mesomelic dysplasia, is related to ulnar hypoplasia with lobster-claw deformity of feet and ulna hypoplasia-intellectual disability syndrome. Affiliated tissues include bone and bone marrow, and related phenotypes are ulnar deviation of finger and hypoplasia of the ulna

Basic Information

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

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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