Ramond-Elliott neurodevelopmental syndrome

Term ID

DOID:0070715

Synonyms

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/

References

• MIM:621421

Ontology

Human Disease   ( DOID:0070715 )