Global Variome shared LOVD

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Phenotype #0000129474 Individual ID 00164371 Associated disease SLS Phenotype details HP:0002313 (spastic paraparesis)HP:0006801 (hyperactive deep tendon reflexes); HP:0007503 (Gen. Ichthyosis); HP:0001249 (intell. dis.); HP:0000768 (pectus carintatum); HP:0002751 (kyphoscoliosis); HP:0001250 (seiz.) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 09y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2018-05-16 17:32:21 +02:00 (CEST) Date last edited N/A

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