Phenotype #0000174347

Individual ID 00233925
Associated disease FDH
Phenotype details hearing loss; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); omphalocele (HP:0001539)
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