Phenotype #0000174331
Individual ID |
00233909 |
Associated disease |
FDH |
Phenotype details |
dental defects; skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); has oral features; coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); osteopathia striata (HP:001074) |
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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