neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures

An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual developm

An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33.

Signs and symptoms

• Anal stenosis
• 3-4 finger cutaneous syndactyly
• Flexion contracture
• Narrow mouth
• Gastroesophageal reflux
• Myoclonic seizure
• Appendicular hypotonia
• Postnatal growth retardation
• Round face
• Constipation

Also known as: NEDHLSS