Phenotype #0000317850

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00426695
Associated disease	-
Phenotype details	dry skin, erythematous and hyperkeratotic with scales present on lips, tip of the nose, ear pinna, legs, matacarpophalangeal joints and feet; tortuous vessels in the macular area with subtle macular changes
Diagnosis/Initial	neuro-ichthyotic disorder
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-12-02 14:17:29 +01:00 (CET)
Date last edited	N/A

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