Phenotype #0000228363
| Individual ID |
00301058 |
| Associated disease |
? |
| Diagnosis/Initial |
intellectual disability, congenital malformations, failure to thrive |
| Diagnosis/Definite |
ZTTKS |
| Phenotype details |
intrauterine growth restriction, maternal borderline diabetes, factor V deficiency; birth 33w, C-section for fetal distress; respiratory failure, feeding difficulties; height 75th percentile, weight 85th percentile, OFC 60th percentile; developmental delay; regression; staring spells; hypotonia; submucous and laryngeal cleft, frontal bossing, bitemporal narrowing, epicanthal folds, thin lip, smooth philtrum; brain imaging periventricular leukomalacia with mild dilation of the lateral ventricle; congenital abnormal placement of carotid arteries neck; esotropia, CVI, blue sclera, segmental optic nerve hypoplasia; hearing pressure-equalizing tubes; failure to thrive, G-tube feeding, diarrhea, reflux, gastric dysmotility; joint laxity, cervical ribs, mild syndactyly; IgA deficiency, recurrent infection |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
3y (3 years) |
| 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 |
2020-05-06 16:54:09 +02:00 (CEST) |
| Date last edited |
N/A |
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