neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (DOID:0070536)
Alliance: disease page
Synonyms: NEDHLSS
Alt IDs: OMIM:620029
Definition: 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.