| Individual ID |
00248867 |
| Associated disease |
? |
| Diagnosis/Initial |
craniofacial and cardiac syndrome |
| Diagnosis/Definite |
- |
| Phenotype details |
cleft lip/palate; no high-arched palate; thin upper lip; choanal atresia; ear anomaly; wide nasal bridge; broad nasal tip; mid-facial hypoplasia; mandibular prognathism; brachycephaly; narrow, upslanted palpebral fissures; hooded eyelids; telecanthus; high arched eyebrows; thin lateral eyebrows; no mild ectropion; no distichiasis; no ankyloblepahron; hypodontia; delayed dentition; abnormal crown form; ventricular septal defect; no tetralogy of Fallot; no atrial septal defect or patent foramen ovale; no no atrial septal defect or patent foramen ovale; PS or coarctation aorta; no patent ductus arteriosus; hypoplastic aortic arch; autism spectrum disorder; attention deficit hyperactivity disorder; developmental delay/learning difficulty; speech delay/language delay; no aggressive behaviour; anomalies hands; no anomalies feet; voice anomalies; skeletal anomalies; short stature; no cancer; cryptorchidism |
| Inheritance |
Familial, autosomal dominant |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2019-07-29 19:36:23 +02:00 (CEST) |
| Date last edited |
2019-08-02 17:05:45 +02:00 (CEST) |
