Disorders

Hyperphosphatasia with Mental Retardation Syndrome 1

Synonym(s): Mabry Syndrome

Gene	Locus	Protein
PIGV	1p36.11	GPI mannosyltransferase 2

Laboratory	Test Method	Prenatal	Carrier *
Charit Unversitaetsmedizin Berlin, Institute of Medical Genetics and Human Genetics - Berlin, Germany
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.