Disorders


 

Camptodactyly, Tall Stature, and Hearing Loss Syndrome


Synonym(s): CATSHL Syndrome

 

OMIM

GeneLocusProtein
FGFR34p16.3 

Laboratory Test Method Prenatal Carrier *
Cologne University, Institute of Human Genetics - Cologne, Germany  

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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