Phenotype #0000292413

Individual ID 00399296
Associated disease HED
Phenotype details see paper; ..., hypotrichosis, hypodontia, anhidrosis; childhood one milk tooth; 27y-permanent teeth not erupted; skin very dry, eczematous, hyperpigmented stains forehead, cheek and chin; scalp hair appeared late and is thin, brittle and sparse; no axillary hair, no pubic hair, sparse eyebrows, sparse eyelashes; recurrent rhinitis, multiple respiratory infections; no sweating
Diagnosis/Initial hypohidrotic ectodermal dysplasia
Inheritance Familial, autosomal recessive
Diagnosis/Definite ECTD11B
Age/Examination 27y (27 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 11:32:09 +01:00 (CET)
Date last edited N/A

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