Phenotype #0000292607

Individual ID 00399502
Associated disease HED
Phenotype details conical teeth, hypodontia, thin hair, sparse hair,decreased sweating; older brother only two permanent teeth, atrophic rhinitis, multiple respiratory infections; mother hypohidrosis, few permanent teeth, milk teeth remained
Diagnosis/Initial hypohidrotic ectodermal dysplasia
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
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 2022-01-21 08:55:01 +01:00 (CET)
Date last edited 2022-01-21 08:59:17 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.