Phenotype #0000174318

Individual ID 00233896
Associated disease FDH
Phenotype details patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); coloboma (HP:0000589);
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