Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000060814 Individual ID 00081236 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis, severe); HP:0002510 (Spastic tetraplegia); HP:0001249 (intellectual disability); HP:0030507 (retinal crystals, "white dots") Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 01y06m (1 year, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2016-09-26 17:45:49 +02:00 (CEST) Date last edited N/A

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