Disorders


 

Haim-Munk Syndrome


Synonym(s): Cochin Jewish Disorder, HMS, Keratosis Palmoplantaris with Periodontopathia and Onychogryposis

 

OMIM

GeneLocusProtein
CTSC11q14.2Dipeptidyl-peptidase 1

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region

* 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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