Global Variome shared LOVD

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

Phenotype #0000060810 Individual ID 00081232 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis, severe); HP:0001250 (seizures); HP:0001249 (intellectual disability); HP:0002188 (Delayed CNS myelination, periventricular); HP:0002510 (spastic tetraplegia); HP:0006801 (hyperactive deep tendon refl.) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2016-09-25 17:31:37 +02:00 (CEST) Date last edited 2017-12-20 20:59:16 +01:00 (CET)

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