ring chromosome 17
Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.
MONDO:0020583
chromosome 17 disorder
is_a
MONDO:0700091
ring chromosome disorder
is_a
R17
related
Ring 17
related
Ring chromosome type 17
exact
chromosome 17 ring
related