SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome

Definition

A rare genetic, syndromic intellectual disability syndrome characterized by mild to severe global developmental delay and intellectual disability, delayed or absent speech and walking, and bilateral sensorineural deafness. Severity of the symptoms are variable. Patients may manifest with profound hypotonia, severe feeding difficulties and secretory dysfuntion. Autistic features, spasticity, mild and non-specific dysmorphic features and cardiac defects were reported in some patients.