Phenotype #0000298567

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00406068
Associated disease	-
Phenotype details	alopecia at 5y, asymmetric face at 13y
Diagnosis/Initial	Progressive hemifacial atrophy (PHA)
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	29y (29 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	keratic precipitate, corneal endothelial degeneration, fundus tessellation, pupillary dilation, direct light reflex loss, and visual evoked potential alteration, progressive enophthalmos on the right side
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-03-25 07:05:25 +01:00 (CET)
Date last edited	N/A

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