Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000129473 Individual ID 00164370 Associated disease SLS Phenotype details HP:0002313 (spastic paraparesis); HP:0006801 (hyperactive deep tendon Reflexes); HP:0007503 (Gen. Ichthyosis); HP:0001249 (intell. dis.); HP:0001763 (pes planus); HP:0001999 (facial dysmorphism) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 03y (3 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 17:15:16 +02:00 (CEST) Date last edited N/A

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