Phenotype #0000078627

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00100435
Associated disease	SLS
Phenotype details	HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability, mild); HP:0001264 (Spastic diplegia)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	09y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Maximilian Weustenfeld
Database submission license	No license selected
Created by	Maximilian Weustenfeld
Date created	2017-02-22 12:19:00 +01:00 (CET)
Date last edited	N/A

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