Global Variome shared LOVD

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Phenotype #0000060860 Individual ID 00081285 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis, moderate); HP:0000989 (Pruritus); HP:0001249 (intellectual disability, severe); HP:0001264 (Spastic diplegia, severe, wheelchair bound); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia); HP:0000613 (photophobia) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2016-09-29 11:13:23 +02:00 (CEST) Date last edited N/A

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