Ring chromosome 14 syndrome
ORPHA:1440· ICD-10 Q93.2
Definition
A rare chromosomal anomalie 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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Not applicable, Unknown
- Age of onset
- Childhood