Global Variome shared LOVD

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

Phenotype #0000059616 Individual ID 00079920 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, moderate); HP:0001249 (intellectual disability, IQ 54); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 37,5 weeks); HP:0002188 (Delayed CNS myelination Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2016-08-27 18:33:35 +02:00 (CEST) Date last edited N/A

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