disease arises from structure disease arises from alteration in structure 2q23.1 (Human) syndromic intellectual disability syndrome caused by partial chromosomal deletion epilepsy multiple congenital anomalies/dysmorphic syndrome-intellectual disability 2q23.1 microdeletion syndrome https://github.com/monarch-initiative/mondo/issues/3664 https://rarediseases.info.nih.gov/diseases/10998/2q231-microdeletion-syndrome https://www.malacards.org/card/mbd5_haploinsufficiency Del(2)(q23.1) Orphanet:228402 MONDO:0016459 chromosome 2q23.1 microdeletion syndrome GARD:0010998 Editor note: TODO check ORDO xref to OMIM MEDGEN:930201 monosomy 2q23.1 The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. pseudo-Angelman syndrome SCTID:719657001 UMLS:C4304532 partial deletion of the long arm of chromosome 2