Ring chromosome 14

Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.

Also known as: Chromosome 14 Ring, Ring chromosome type 14, ring chromosome 14 syndrome, isolated cases, RING chromosome 14 syndrome, Ring 14, chromosome 14 ring

2 clinical trials for this condition and its sub-types.