Taxon:

Human

Gene:

Birk-Barel mental retardation dysmorphism syndrome / KCNK9 imprinting syndrome

Chromosome:

08

Location:

8q24.3

Description:

Barel O et al (2008) described a kindred with maternally inherited mental retardation dysmorphism syndrome (Birk-Barel syndrome) caused by a specific mutation (p.Gly236Arg) in the imprinted, maternally expressed, gene KCNK9. The syndrome has been reviewed by Zadeh N and Graham JM (2017).

Category:

Imprinting disorder

Record:

1410

Last Modified 3/27/2017

Links:

OMIM


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