ring chromosome 20
Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioral problems. In rare cases, brain, kidney or heart malformations may be present.
MONDO:0005027
epilepsy
excluded_subClassOf
MONDO:0700025
chromosome 20 disorder
is_a
MONDO:0700091
ring chromosome disorder
is_a
R20
related
chromosome 20 ring
related
ring 20
related
ring chromosome 20 syndrome
exact
ring chromosome type 20
exact