2p21 microdeletion syndrome
MONDO:0015583The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.
Also known as: 2p21 deletion syndrome, 2p21 microdeletion syndrome, Del(2)(p21), monosomy 2p21
2 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Broader categories
Disease
(618)
Human disease
(14)
Chromosomal disorder
(12)
Disease of genetic or genomic mechanism
(2)
Autosomal anomaly
(0)
Chromosome 2 disorder
(0)
Disease by etiologic mechanism
(0)
Partial deletion of chromosome 2
(0)
Partial deletion of the short arm of chromosome 2
(0)
Syndrome caused by partial chromosomal deletion
(0)