Global Variome shared LOVD

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

Phenotype #0000129494 Individual ID 00164457 Associated disease SLS Phenotype details HP:0007503 (Gen. Ichth.) HP:0001257 (Spastic., severe) HP:0001249 (intell. dis., severe) HP:0011400 (abn. CNS myelin.) HP:0012444 (brain atrophy) MRS Lipid peak Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2018-05-19 15:12:49 +02:00 (CEST) Date last edited N/A

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