2p21 microdeletion syndrome
2p21 deletion syndrome
exact
2p21 microdeletion syndrome
exact
Del(2)(p21)
exact
monosomy 2p21
exact
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.
MONDO:0011669
hypotonia-cystinuria syndrome
excluded_subClassOf
MONDO:0016901
partial deletion of the long arm of chromosome 2
excluded_subClassOf
MONDO:0016884
partial deletion of the short arm of chromosome 2
is_a