Phenotype #0000174319

Individual ID 00233897
Associated disease FDH
Phenotype details mid facial hypoplasia; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441); syndactyly (HP:0001159), scoliosis (HP:0002650), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); thin protruding ear (HP:0000411); omphalocele (HP:0001539)
Diagnosis/Initial Goltz-Gorlin syndrome
Inheritance Unknown
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