chromosome 15q13.3 microdeletion syndrome true A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. 15q13.3 microdeletion syndrome ICD10CM:Q93.5 disease_ontology MESH:C567439 ORDO:199318 OMIM:612001 DOID:0060394 This chromosomal abnormality is associated with intellectual impairment, developmental delay and epilepsy. Seizures of various types may occur, however these are typically generalized (myoclonic, absence and generalized tonic-clonic). Dysmorphic features may include everted lips, deep-set eyes, upslanting palpebral fissures, hypertelorism, synophris, prominent philtrum and hypotonic facies. A CGH microarray is usually the most useful diagnostic test. GARD:10296 elvira 2015-09-28T16:23:21Z chromosomal anomaly