Phenotype #0000179269
| Individual ID |
00238974 |
| Associated disease |
BBIS |
| Phenotype details |
global developmental delay (HP:0001263), Facial Dysmorphism (HP:0001999), Synophrys (HP:0000664), deep-set eyes (HP:0000490), short palpebral fissure (HP:0012745), epicanthic folds (HP:0000286), plagiocephaly (HP:0001357), Cryptorchidism (HP:0000028), Sprengel anomaly (HP:0000912), Failure to thrive (HP:0001508) |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
- |
| Age/Diagnosis |
09y |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
MedGenome_db |
| Database submission license |
No license selected |
| Created by |
MedGenome_db |
| Date created |
2019-05-29 09:17:16 +02:00 (CEST) |
| Date last edited |
2019-06-07 11:29:14 +02:00 (CEST) |
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