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

Term ID

DOID:0070536

Synonyms

• NEDHLSS

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. https://pubmed.ncbi.nlm.nih.gov/34163037/

References

• MIM:620029

Ontology

Human Disease   ( DOID:0070536 )