Phenotype #0000053268

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00072286
Associated disease	HMLR1
Phenotype details	Heimler Syndrome patient; sensorineural hearing loss (HP:0000407), amelogenesis imperfecta (HP:0000705), nail abnormalities (HP:0001597)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Glenda Beaman
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2016-06-11 19:56:09 +02:00 (CEST)
Date last edited	N/A

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