| Individual ID |
00248857 |
| Associated disease |
? |
| Diagnosis/Initial |
craniofacial and cardiac syndrome |
| Diagnosis/Definite |
- |
| Phenotype details |
no cleft lip/palate; high-arched palate; thin upper lip; choanal atresia; no ear anomaly; wide nasal bridge; broad nasal tip; mid-facial hypoplasia; mandibular prognathism; no brachycephaly; no narrow, upslanted palpebral fissures; no hooded eyelids; no telecanthus; high arched eyebrows; thin lateral eyebrows; mild ectropion; distichiasis; no ankyloblepahron; hypodontia; delayed dentition; abnormal crown form; ventricular septal defect; no tetralogy of Fallot; atrial septal defect or patent foramen ovale; mitral valve stenosis; no PS or coarctation aorta; no patent ductus arteriosus; hypoplastic aortic arch; no autism spectrum disorder; no attention deficit hyperactivity disorder; no developmental delay/no learning difficulty; no speech delay/no language delay; no aggressive behaviour; no anomalies hands; no anomalies feet; no voice anomalies; skeletal anomalies, scoliosis; no short stature; no cancer; restrictive lung disease |
| 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) |
