Condition: Birk-Barel Mental Retardation Dysmorphism Syndrome


rs121908332 in KCNK9 gene and Birk-Barel Mental Retardation Dysmorphism Syndrome PMID 18678320 2008 Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.