Phenotype #0000227060

Individual ID	00299747
Associated disease	ECTD
Diagnosis/Initial	anhidrotic ectodermal dysplasia
Diagnosis/Definite	XHED
Phenotype details	recurrent fever 38oC due to the absence of sweating since birth, characteristic facial appearance, anhidrosis; 1m- eruptions on face and head spread to entire body; diagnosed with atopic dermatitis, nasal allergy, chronic sinusitis, heat intolerance; fine curly sparse hair, absent eyebrows, saddle nose, conical teeth, deciduous canine and second premolar teeth, permanent first incisor and first molar teeth maxillary ridge, no deciduous and permanent tooth buds in mandible
Inheritance	Familial, X-linked recessive
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-20 21:22:34 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD