Global Variome shared LOVD

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

Phenotype #0000172148 Individual ID 00228218 Associated disease NF1 Phenotype details Multiple cafe-au-lait spots (HP:0007565), freckling (HP:0001480), ptosis (HP:0000508), low-set ears (HP:0000369), glioma (HP:0009733), astrocytoma (HP:0009592), brain (thalamus) neoplasm (HP:0030692), dilated ventricles (HP:0002119), motor delay(HP:0001270) Diagnosis/Initial NF-1 Inheritance Isolated (sporadic) Diagnosis/Definite NF-1 Age/Examination 01y08m (1 year, 8 months) Age/Diagnosis 01y08m Age/Onset 01y Phenotype/Onset - Protein - Owner name Kristina Karandasheva Database submission license No license selected Created by Kristina Karandasheva Date created 2019-03-21 11:55:12 +01:00 (CET) Date last edited 2019-03-22 14:31:17 +01:00 (CET)

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