Phenotype #0000228800
| Individual ID |
00301702 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
pregnancy and delivery were unremarkable. He presented with failure to thrive, global developmental delay and epilepsy with history of choanal atresia. She has facial dysmorphic features including bilateral epicanthic folds, high nasal bridge, multiple bilateral preauricular ear tags, retrognathia, midface hypoplasia and asymmetric face. There is history of ventricular septal defect (closed now), and mild gastro-oesophageal reflux. Eye examination showed no coloboma, however, there was evidence of central vision impairment confirmed by ERG. She has subclinical hypothyroidism. CT scan of the temporal bones showed no middle ear and inner ear defects. Brain MRI showed diffuse atrophic brain lesions, MR Spectroscopy showed reduction of N-Acetyl Aspartate and elevation of lactate peak especially in the basal ganglia. There is positive family history of two twin daughters with similar presentation. In addition, there was history of 6 spontaneous miscarriages. |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
11y (11 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 |
2020-05-22 17:20:34 +02:00 (CEST) |
| Date last edited |
N/A |
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