Catalog

Ring chromosome 14 with normal number of chromosomes

No MMS code

Link to WHO Definition

Ring chromosome 14 with normal number of chromosomes – http://id.who.int/icd/entity/1211029320

Ring chromosome 14 syndrome is a chromosomal anomaly characterised 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.