Ontology highlight
ABSTRACT:
SUBMITTER: Malerba N
PROVIDER: S-EPMC6315145 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Malerba Natascia N Towner Shelley S Keating Katherine K Squeo Gabriella Maria GM Wilson William W Merla Giuseppe G
Frontiers in genetics 20181212
Homozygous and compound heterozygous pathogenic variants in <i>GNB5</i> have been recently associated with a spectrum of clinical presentations varying from a severe multisystem form of the disorder including intellectual disability, early infantile developmental and epileptic encephalopathy, retinal abnormalities and cardiac arrhythmias (IDDCA) to a milder form with language delay, attention-deficit/hyperactivity disorder, cognitive impairment, with or without cardiac arrhythmia (LADCI). Approx ...[more]