Disorders

Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Synonym(s): Carpenter-Waziri Syndrome, Chudley-Lowry Syndrome, Holmes-Gang Syndrome, Juberg-Marsidi Syndrome, Mental Retardation, X-Linked, with Growth Retardation, Deafness, and Microgenitalism, Smith-Fineman-Myers Syndrome 1

OMIM

Gene	Locus	Protein
ATRX	Xq21.1	Transcriptional regulator ATRX

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
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.