Phenotype #0000060874

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00081301
Associated disease	SLS
Phenotype details	HP:0007503 (Generalized Ichthyosis, collodion membrane at birth); HP:0001264 (Spastic diplegia, non-ambulatory); HP:0001249 (intellectual disability)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	01y03m (1 year, 3 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Maximilian Weustenfeld
Database submission license	No license selected
Created by	Maximilian Weustenfeld
Date created	2016-09-30 11:43:55 +02:00 (CEST)
Date last edited	N/A

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