Phenotype #0000174349

Individual ID 00233927
Associated disease FDH
Phenotype details optic atrophy, dental defects, inguinal hernia, seizures; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; microcephaly (HP:0000252);
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