Global Variome shared LOVD

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

Phenotype #0000060827 Individual ID 00081249 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair-bound); Motor disability in arms (moderate); HP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with severe speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 63y (63 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2016-09-27 14:32:26 +02:00 (CEST) Date last edited N/A

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