Phenotype #0000172725

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00016486
Associated disease	ECTD3
Phenotype details	aplasia/hypoplasia nails (HP:0008386), abnormal number of teeth (HP:0006483) 11-28 congenitally missing permanent teeth (oligodontia), dysplastic toenails and/or fingernails, normal sweat glands, normal hair
Diagnosis/Initial	Witkop syndrome
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	ECTD-3
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Elaine Lustosa Mendes
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2019-03-27 16:05:55 +01:00 (CET)
Date last edited	N/A

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