Global Variome shared LOVD

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Phenotype #0000060872 Individual ID 00081299 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis, brown-colored pigmentation); HP:0001249 (intellectual disability); HP:0002313 (Spastic paraparesis) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 01y (1 year) 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 10:31:06 +02:00 (CEST) Date last edited N/A

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