The chromosome 13q14 deletion syndrome is characterized by retinoblastoma (180200), variable degrees of mental impairment, and characteristic facial features, including high forehead, prominent philtrum, and anteverted earlobes (summary by Caselli et al., 2007). [from OMIM]
- MedGen UID:
- 462652
- •Concept ID:
- C3151302
- •
- Disease or Syndrome