Disorders

Hypomyelination and Congenital Cataract

Synonym(s): HCC, Hypomyelinating Leukodystrophy 5

Gene	Locus	Protein
FAM126A	7p15.3	Hyccin

Laboratory	Test Method	Prenatal	Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA
MGZ München, Medizinisch Genetisches Zentrum München - München, 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.