Phenotype #0000174297

Individual ID 00233875
Associated disease FDH
Phenotype details syringocystadenoma papilliferum, blashkolinear streaks of dermal hyperpigmentation, telangiectasias, hyperpigmented macules, soft yellow nodules; skin hypoplasia (HP:0008065); skeletal defects (HP:0011842); has oral features; eye anomalies (HP:0000478);
Diagnosis/Initial focal dermal hypoplasia, syringocystadenoma papilliferum
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