Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome, also known as hypotonia, infantile, with psychomotor retardation and characteristic facies, is related to hypotonia, infantile, with psychomotor retardation and characteristic facies 1 and hypotonia, infantile, with psychomotor retardation and characteristic facies 2. An important gene associated with Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome is UNC80 (Unc-80 Homolog, NALCN Channel Complex Subunit), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Ion channel transport. Related phenotypes are global developmental delay and delayed speech and language development