Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

Definition

Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.

Also known as hypotonia, infantile, with psychomotor retardation and characteristic facies 1, hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN, NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies — per MONDO

Also identified as

• OMIM 615419 per MONDO
• Orphanet 700336 per MONDO
• UMLS C3809454 per MONDO