Phenotype #0000021995
| Individual ID |
00025925 |
| Associated disease |
HPMRS1;GPIBD2 |
| Phenotype details |
Patient with developmental delay, elevated serum levels of AP, distinctive facial features, hypoplastic terminal phalanges, and Hirschsprung disease. |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Philippe Campeau |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Philippe Campeau |
|
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