Disorders

Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Synonym(s): Martin-Probst Deafness-Mental Retardation Syndrome, MRXSMP

Gene	Locus	Protein
RAB40AL	Xq22.2	Ras-related protein Rab-40A-like

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis

^* 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.