Global Variome shared LOVD

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

Phenotype #0000129475 Individual ID 00164372 Associated disease SLS Phenotype details HP:0002313 (spastic paraparesis, "can't walk"); HP:0006801 (hyperactive deep tendon Reflexes); HP:0007503 (Gen. Ichthyosis); HP:0001249 (intell. dis.); HP:0006297 (dental hypoplasia); HP:0001999 (facial dysmorphism); HP:0011400 (abn. CNS myelin.) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 02y (2 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 17:46:15 +02:00 (CEST) Date last edited N/A

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