Phenotype #0000174296

Individual ID 00233874
Associated disease FDH
Phenotype details dental defects, anophthalmia, hearing loss; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); has oral features; significantly decreased vision (HP:0000572), microphthalmia (HP:0000568);
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