Global Variome shared LOVD

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Phenotype #0000141905 Individual ID 00179419 Associated disease SLS Phenotype details HP:0007503 (Gen. Ichthyosis, neck, trunk, extremities); HP:0001263 (Global developmental delay, early, particularly speech, language and motor milestones); HP:0001264 (Spastic diplegia, did not sit until 12 month, cannot stand independently) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 01y? (approximately 1 year) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2018-08-21 11:40:22 +02:00 (CEST) Date last edited 2018-09-25 10:47:45 +02:00 (CEST)

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