FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures ID (Ontology) DOID:0070536 (Human Disease)
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.
Also Known As "NEDHLSS"
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 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures       1
 for disease ribbon | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures       1
 model of | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures       1
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autosomal dominant disease__
intellectual disability_____|
                            autosomal dominant intellectual developmental disorder
                             |__neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures  1 rec.
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Is a autosomal dominant intellectual developmental disorder
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Synonyms
  • "NEDHLSS" EXACT OMO:0003012
Secondary IDs
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MIM:620029