Global Variome shared LOVD

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

Phenotype #0000117220 Individual ID 00144453 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis); HP:0001264 (spastic diplegia); HP:0001263 (global developmental delay) 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 2017-12-14 22:25:20 +01:00 (CET) Date last edited N/A

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