Phenotype #0000300211

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00408083
Associated disease	-
Phenotype details	12 years old boy who had ichthyosis since birth (erythematous, dry, and scaly skin). He also had sparseness of scalp hair, eyebrow, and eyelashes; dry and thickened palms and soles; weight and height below 5th percentiles; and normal development. His parents were cousins and he had two affected siblings and three unaffected siblings.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Netherton syndrome
Age/Examination	12y (12 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-13 19:19:00 +02:00 (CEST)
Date last edited	N/A