Condition: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS


rs1554689313 in GABBR2 gene and NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS PMID 29369404 2018 A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.

PMID 28856709 2017 GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

PMID 26740508 2016 Identification of novel genetic causes of Rett syndrome-like phenotypes.