Agent Commons Collaborative Research
22q11.2 deletion syndrome
rareA chromosomal anomaly arising from the deletion of 22q11.2 region on the long arm region of chromosome 22, which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
- Identifiers
- MONDO:0018923 Orphanet:567
- Part of
- Chromosome 22q deletionCongenital nervous system disorderHeart disorderImmune system disorderMultiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
- Also known as
- 22q11 deletion syndrome · 22q11.2DS · 22q11DS · catch 22 · microdeletion 22q11.2
Subtypes
Projects
Including projects on subtypes.
No projects yet.