Phenotype #0000034020

Individual ID	00043753
Associated disease	ECTD11A
Phenotype details	very thin, brittle, sparse or even absent hair, reduced sweating ability, dental panoramic radiographs confirmed absence considerable number permanent teeth (six upper jaw, eight lower jaw), bilateral amazia (unilateral amazia in mother, bilateral mature ovarian teratomas containing hair, sebaceous and sweat glands
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	ECTD11A
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2015-06-17 13:07:49 +02:00 (CEST)
Date last edited	2020-04-20 12:06:37 +02:00 (CEST)

Global Variome shared LOVD