Phenotype #0000292412

Individual ID 00399295
Associated disease ECTD
Diagnosis/Initial anhidrotic ectodermal dysplasia
Diagnosis/Definite ECTD11B
Phenotype details see paoer; ..., severe hypo-hidrotic and anhidrotic ectodermal dysplasia, multiple pulmonary infections; sparse hair, oligodontia with conical widely spaced teeth, ichthyosiform dry skin, prominent lips, frontal bossing, pointed chin; inability to sweat, episodes severe hyperpyrexia since early childhood
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-01-19 11:08:25 +01:00 (CET)
Date last edited N/A

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