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
0 clinical trials for this condition and its sub-types.
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Broader categories
Disease
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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)
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