2p21 microdeletion syndrome
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
2p21 deletion syndrome
exact
2p21 microdeletion syndrome
exact
Del(2)(p21)
exact
monosomy 2p21
exact