Phenotype #0000326478
| Individual ID |
00436298 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
cohesinopathy |
| Phenotype details |
no synophrys; long curly eyelashes, anteverted nares, high palate, downturned mouth,widely spaced teeth etc.; developmental delay, intellectual disability; major eye malformation, small niples; diaphragmatic hernia, gastroesophageal reflux; failure to thrive; weight 6th, length <2nd, OFC <2nd; short stature; microcephaly; motor delay; speech delay; hypotonia; long curly eyelashes; no ptosis; hypertelorism; anteverted nares; depressed/broad nasal bridge; bulbous nasal tip; no low-set ears; no microtia; dysmorphic ears; long/smooth philtrum; thin upper lip; downturned mouth; widely spaced teeth; micrognathia; short neck; no congenital heart defect; congenital diaphragmatic hernia (right); pulmonary hypoplasia (right); gastroesophageal reflux; vertebral anomalies, vertebral clefts |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
11y1m (11 years, 1 month) |
| 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 |
2023-08-31 23:02:18 +02:00 (CEST) |
| Date last edited |
N/A |
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