Ring chromosome 14

Definition

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 14 syndrome, isolated cases, Ring chromosome type 14 — per MONDO

Also identified as

• DOID 0070621 per MONDO
• ICD9 758.89 per MONDO
• MESH C535487 per MONDO
• OMIM 616606 per MONDO
• Orphanet 1440 per MONDO
• SCTID 702345009 per MONDO
• UMLS C2930916 per MONDO