Global Variome shared LOVD

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

Phenotype #0000059358 Individual ID 00079634 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0012758 (Neurodevelopmental delay); HP:0001258 (Spastic paraplegia); HP:0007266 (Cerebral dysmyelination) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 01y (1 year) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2016-08-15 20:20:28 +02:00 (CEST) Date last edited 2017-09-23 13:56:31 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.