The main clinical features are intellectual disability, developmental delay, muscular hypotonia, epilepsy, facial dysmorphisms, multiorgan anomalies, hearing loss, brachytelephalangy and hyperphosphatasia.
PGAP2PGAP2The main clinical features are intellectual disability, developmental delay, muscular hypotonia, epilepsy, facial dysmorphisms, multiorgan anomalies, hearing loss, brachytelephalangy and hyperphosphatasia.