Phenotype #0000068417

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00089013
Associated disease	SLS
Phenotype details	HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0001257 (spasticity, wheelchair-bound); HP:0030507 (retinal crystals, "white dots"); HP:0007663 (reduced visual acuity,right: 20/80, left: 20/60)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	29y (29 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Maximilian Weustenfeld
Database submission license	No license selected
Created by	Maximilian Weustenfeld
Date created	2016-11-27 13:14:46 +01:00 (CET)
Date last edited	N/A

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