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Metadata
ID	DOID:0070715
PURL	http://purl.obolibrary.org/obo/DOID_0070715 Copy Copied!
Name	Ramond-Elliott neurodevelopmental syndrome
Definition	An autosomal dominant intellectual developmental disorder characterized by global developmental delay, hypotonia, delayed walking or inability to walk, impaired intellectual development that is usually severe, and poor or absent speech that has_material_basis_in heterozygous mutation in the TRA2B gene on chromosome 3q27. https://pubmed.ncbi.nlm.nih.gov/36549593/
Xrefs	MIM:621421
SKOS	exactMatch MIM:621421
Subsets	DO_rare_slim
Parent Relationships	is_a autosomal dominant intellectual developmental disorder
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance