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.

Also known as: Ring chromosome type 17, R17, Ring 17, Ring chromosome 17 syndrome, chromosome 17 ring

0 clinical trials for this condition and its sub-types, 0 tagged with Ring chromosome 17 itself.