2q33.1 microdeletion syndrome https://github.com/monarch-initiative/mondo/issues/3664 SCTID:763062006 monosomy 2q33.1 DECIPHER:51 UMLS:C4706258 GARD:0017204 2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated. MONDO:0016653 Orphanet:251028 MEDGEN:1645054 Del(2)(q33.1) partial deletion of the long arm of chromosome 2 obsolete_2q33.1 microdeletion syndrome