Phenotype #0000068349

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00088946
Associated disease	SLS
Phenotype details	HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0001264 (spastic diplegia, or tetraplegia: paper not precise); HP:0030507 (retinal crystals, probably: paper not precise)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	?
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Maximilian Weustenfeld
Database submission license	No license selected
Created by	Maximilian Weustenfeld
Date created	2016-11-26 12:57:02 +01:00 (CET)
Date last edited	N/A

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