Global Variome shared LOVD

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Phenotype #0000060813 Individual ID 00081235 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus); HP:0009237 (Short 5th finger, bilaterally); HP:0001264 (Spastic diplegia); HP:0008936 (Muscular hypotonia of the trunk, problems with sitting); HP:0001250 (seizures); HP:0001622 (premature birth, 36 weeks); no ocular or visual abnormalities! Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 01y07m (1 year, 7 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2016-09-26 13:17:54 +02:00 (CEST) Date last edited N/A

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