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Ring chromosome 14

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Not applicable
or Unknown
Age of onset Childhood
  • Q93.2
  • C2930916
  • C535487
MedDRA -


Disease 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.


It has been described in about 50 patients.

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