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Metadata
ID	DOID:0070536
Name	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
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/
Xrefs	MIM:620029
Synonyms	NEDHLSS [EXACT]
Parent Relationships	is_a autosomal dominant intellectual developmental disorder