Disorders

Microphthalmia with Linear Skin Defects Syndrome

Synonym(s): Microphthalmia with Linear Skin Lesions Syndrome, Microphthalmia, Dermal Aplasia, and Sclerocornea, MLS Syndrome

GeneReview OMIM

Gene	Locus	Protein
HCCS	Xp22	Cytochrome c-type heme lyase

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• FISH-metaphase
Centogene AG, Rare Disease Company - Rostock, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Medical Neurogenetics - Atlanta, GA, USA
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase

^* 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.