Global Variome shared LOVD

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

Phenotype #0000143243 Individual ID 00180976 Associated disease SLS Phenotype details HP:0007503 (Gen. Ichth.); HP:0002510 (Spastic quadriplegia/tetraplegia, not walking); HP:0001249 (intellectual disability); HP:0007266 (Cerebral dysmyelination, periventricular, bilaterally symmetrical) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2018-09-19 13:56:44 +02:00 (CEST) Date last edited N/A

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