Global Variome shared LOVD

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

Phenotype #0000117221 Individual ID 00144454 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis); HP:0001258 (spastic paraplegia); HP:0001249 (intellectual disability, moderate); HP:0002751 (kyphoscoliosis); HP:0001374 (congenital hip dislocation); HP:0001347 (Hyperreflexia) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2017-12-14 22:36:36 +01:00 (CET) Date last edited 2017-12-21 22:46:55 +01:00 (CET)

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