Global Variome shared LOVD

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Phenotype #0000060811 Individual ID 00081233 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis); HP:0001257 (Spasticity, more prominent in lower extremities); HP:0007266 (Cerebral dysmyelination, periventricular, very mild); abnormal H-MRS lipid peaks at 1.3 ppm (prominent) and 0.9 ppm (small, narrow); HP:0006801 (hyperact. deep tendon refl.) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2016-09-26 11:44:16 +02:00 (CEST) Date last edited 2017-12-20 21:09:53 +01:00 (CET)

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