Disorders

Birk-Barel Mental Retardation Dysmorphism Syndrome

Synonym(s): Mental Retardation with Hypotonia and Facial Dysmorphism

Gene	Locus	Protein
KCNK9	8q24.3	Potassium channel subfamily K member 9

Laboratory	Test Method	Prenatal	Carrier *
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.