disease arises from structure
disease arises from alteration in structure
2q33.1 (Human)
syndrome caused by partial chromosomal deletion
2q33.1 microdeletion syndrome
https://github.com/monarch-initiative/mondo/issues/3664
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 inlcude 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.
DECIPHER:51
UMLS:C4706258
MONDO:0016653
GARD:17204
Del(2)(q33.1)
SCTID:763062006
monosomy 2q33.1
Orphanet:251028
partial deletion of the long arm of chromosome 2