Global Variome shared LOVD

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

Phenotype #0000059089 Individual ID 00079361 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0012758 (Neurodevelopmental delay); HP:0001258 (Spastic paraplegia); HP:0007702 (Pigmentary retinal deposits, "white glistening dots"); HP:0007266 (Cerebral dysmyelination); Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2016-08-09 19:55:35 +02:00 (CEST) Date last edited 2017-09-23 13:54:42 +02:00 (CEST)

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