Phenotype #0000292441

Individual ID 00399324
Associated disease HED
Phenotype details see paper; ..., hypohidrotic ectodermal dysplasia, short stature, normal mental development; sparse hair, sparse eyebrows; normal finger nails; unable to sweat; no cardiac abnormality; no erupted deciduous or permanent teeth, lateral cephalogram and panoramic radiograph only one mandibular molar right side; alveolar bone height maxilla and mandible extremely low
Diagnosis/Initial hypohidrotic ectodermal dysplasia
Inheritance Isolated (sporadic)
Diagnosis/Definite ECTD11B
Age/Examination 05y (5 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 14:22:32 +01:00 (CET)
Date last edited N/A

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