Phenotype #0000228801
| Individual ID |
00301703 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
multiple congenital anomalies, seizures, bilateral deafness, visual impairment and global developmental delay. CT scan showed bilateral soft tissue choanal atresia. MRI brain showed Dandy-Walker variant, cerebellar atrophy, moderate dilatation of lateral ventricles, reduction in the size of right hippocampus and hypomyelination. She has right dysplastic atrophic kidney. Facial dysmorphism includes small eyes, midface hypoplasia and prominent ears. Echocardiography was normal. X-Ray of the thoracolumbar spine showed segmentation anomaly of the vertebrae at the level of T7 vertebra. Rest of the vertebral body heights and intervertebral disc spaces appeared normal. Accentuated thoracolumbar lordosis was seen. Mild generalized reduction in bone density was noted. Parents are first cousins. She has two healthy sisters and history of 2 miscarriages. Pregnancy was unremarkable. |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
12y (12 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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