Phenotype #0000174293
| Individual ID |
00233871 |
| Associated disease |
FDH |
| Phenotype details |
unilateral hexadactyly; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); |
| 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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