Global Variome shared LOVD

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

Phenotype #0000060337 Individual ID 00080758 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability, IQ 48); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 33 weeks); HP:0002188 (Delayed CNS myelination) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2016-09-10 12:21:43 +02:00 (CEST) Date last edited N/A

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