chromosomal deletion syndrome velocardiofacial syndrome disease_ontology SNOMEDCT_US_2025_09_01:205642004 UMLS_CUI:C0220704 ICD10CM:Q93.81 ICD9CM:758.32 MESH:D004062 DOID:12583 A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations. MIM:192430 OMIM mapping confirmed by DO. [LS]. Shprintzen syndrome VCF-Velocardiofacial syndrome