Phenotype #0000174310
| Individual ID |
00233888 |
| Associated disease |
FDH |
| Phenotype details |
horseshoe kidney, mitral valve prolapse; skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); microphthalmia (HP:0000568), coloboma (HP:0000589); major internal organs anomalies; omphalocele (HP:0001539) |
| Diagnosis/Initial |
Goltz-Gorlin syndrome |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Definite |
FDH |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Maria Paola Lombardi |
| Database submission license |
No license selected |
| Created by |
Maria Paola Lombardi |
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