Global Variome shared LOVD

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

Phenotype #0000060807 Individual ID 00081229 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001257 (Spasticity, unable to walk); HP:0001249 (intellectual disability, moderate); HP:0001250 (seizures); HP:0007305 (CNS demyelination, periventricular); HP:0001622 (premature birth, 32 weeks); HP:0006801 (hyperact. deep tendon refl.) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 12y (12 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 16:19:26 +02:00 (CEST) Date last edited 2017-12-20 20:54:22 +01:00 (CET)

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