Phenotype #0000068440

Individual ID	00089042
Associated disease	PN
Phenotype details	Birth weight, length, and head circumference were all normal. A rash on lower legs and feet developed at approximately 10 months of age, then spread along the hands, forearms, thighs, buttock, ears and face. Poikiloderma spared the trunk, abdomen, and popliteal and antecubital fossae. Multiple infections, including rhinitis, otitis media and pneumonia since 1 year of age, were reported. Nail, hair, teeth, palms and soles were all normal. No hepatosplenomegaly. No osteopenia. Social and cognitive development were within normal limits.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	00y10m?
Phenotype/Onset	-
Protein	-
Owner name	Elisa Adele Colombo
Database submission license	No license selected
Created by	Elisa Adele Colombo
Date created	2016-11-28 16:02:37 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD