Global Variome shared LOVD

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

Phenotype #0000060806 Individual ID 00081228 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0001250 (seizures); HP:0001264 (spastic diplegia); HP:0007663 (reduced visual acuity, 0,5 in both eyes); HP:0030507 (retinal crystals); HP:0007305 (CNS demyelination, periventricular white matter) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 30y (30 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 15:46:07 +02:00 (CEST) Date last edited 2016-09-25 16:01:17 +02:00 (CEST)

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