Phenotype #0000349750

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00462250
Associated disease	CHANDS
Diagnosis/Initial	CHAND syndrome
Diagnosis/Definite	CHAND
Phenotype details	see paper; ..., ankyloblepharon, sparse hair, curly hair, hypoplastic nails
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-02-06 17:03:22 +01:00 (CET)
Date last edited	N/A

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