Global Variome shared LOVD

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

Phenotype #0000060844 Individual ID 00081267 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, moderate); HP:0001249 (intellectual disability, with severe speech disorder); HP:0001250 (seizures); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 26y (26 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 19:04:25 +02:00 (CEST) Date last edited N/A

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