Phenotype #0000351462
| Individual ID |
00466078 |
| Associated disease |
RSTS1 |
| Phenotype details |
Global developmental delay, Atypical behavior, Abnormality of the face, Clinodactyly, Sensorineural hearing impairment, Intellectual disability, Bicuspid aortic valve, Cryptorchidism |
| Diagnosis/Initial |
- |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Definite |
- |
| Age/Examination |
12y (12 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Andreas Laner |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Andreas Laner |
| Date created |
2025-07-31 14:56:52 +02:00 (CEST) |
| Date last edited |
2025-08-01 12:52:48 +02:00 (CEST) |
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