ORPHA:163693
2p21 microdeletion syndrome
Also called 2p21 deletion syndrome, Del(2)(p21), Monosomy 2p21
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
About this disease
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.
Definition from Orphanet.
Common signs
- Hypogonadism
- Long eyelashes
- Nephrolithiasis
- Hypotonia
- Global developmental delay
- Failure to thrive
Learn more
Source: Orphanet (Orphadata), ORPHA:163693. Data release 2026-06-23. www.orphadata.com — CC BY 4.0.