Disease association ontology term - MONDO:0014558 - autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Term summary
- ID
- MONDO:0014558
- Name
- autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Ontology or CV name
- Disease association
- Definition
- A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.
