Phenotype #0000059357

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00079633
Associated disease	SLS
Phenotype details	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0012758 (Neurodevelopmental delay); HP:0001258 (Spastic paraplegia); HP:0007266 (Cerebral dysmyelination)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	02y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Maximilian Weustenfeld
Database submission license	No license selected
Created by	Maximilian Weustenfeld
Date created	2016-08-15 20:08:38 +02:00 (CEST)
Date last edited	2017-09-23 13:56:12 +02:00 (CEST)

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