Phenotype #0000174307

Individual ID 00233885
Associated disease FDH
Phenotype details skin hypoplasia (HP:0008065), fat herniation (HP:0008441); microphthalmia (HP:0000568); 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