Phenotype #0000228360
| Individual ID |
00301055 |
| Associated disease |
? |
| Diagnosis/Initial |
intellectual disability, congenital malformations, failure to thrive |
| Diagnosis/Definite |
ZTTKS |
| Phenotype details |
intrauterine growth restriction, placenta previa; birth 32w, C-section for fetal distress; respiratory failure, feeding difficulties; height 2nd percentile, weight 3rd percentile, OFC 2nd percentile; developmental delay; regression; autism spectrum disorder; seizures; hypotonia; frontal bossing, bitemporal narrowing, epicanthal folds, thin lip, smooth philtrum; brain imaging global volume loss, thin corpus callosum, mild periventricular gliosis; congenital atrial septal defect (resolved); exotropia, nystagmus; hearing pressure-equalizing tubes; delayed gastric emptying, feeding difficulties; joint laxity; deep-vein thrombosis |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
6y (6 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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