Global Variome shared LOVD

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Phenotype #0000068349 Individual ID 00088946 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0001264 (spastic diplegia, or tetraplegia: paper not precise); HP:0030507 (retinal crystals, probably: paper not precise) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination ? Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2016-11-26 12:57:02 +01:00 (CET) Date last edited N/A

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