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.