| Individual ID |
00018531 |
| Associated disease |
GTPTS |
| Inheritance |
Unknown |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Phenotype details |
Scrotal hypoplasia; Cryptorchidism; Absent patellae; Flexion contractures of the knees; Club foot; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Coarse face; Broad/bulbous nose; Hydronephrosis; Pelvic anomaly; Congenital heart defect (PDA); |
| Protein |
- |
| Owner name |
Philippe Campeau |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Philippe Campeau |
| Date created |
2012-01-22 18:55:16 +01:00 (CET) |
| Date last edited |
2012-02-12 12:48:53 +01:00 (CET) |