IDDCDF is an autosomal recessive syndromic neurodevelopmental disorder characterized by globally impaired development with intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Additional features, such as distal skeletal anomalies, may also be observed (Stephen et al., 2018). [from OMIM]
- MedGen UID:
- 1675627
- •Concept ID:
- C5193024
- •
- Disease or Syndrome