Disorders


 

Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis


Synonym(s): MACS Syndrome

 

OMIM

GeneLocusProtein
RIN220p11.22Ras and Rab interactor 2

Laboratory Test Method Prenatal Carrier *
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  

* 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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