Phenotype #0000174282

Individual ID 00233860
Associated disease FDH
Phenotype details nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159); microphthalmia (HP:0000568), coloboma (HP:0000589); mental retardation (HP:0001249);
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