Global Variome shared LOVD

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

Phenotype #0000303210 Individual ID 00411119 Associated disease TSC Diagnosis/Initial tuberous sclerosis TSC/Features dysplasias cortical;macules hypomelanotic;nodules;rhabdomyoma cardiac;Shagreen patch Diagnosis/Definite TSC-1 Inheritance Isolated (sporadic) Phenotype details Hypomelanotic macules (HP:0009719); Shargreen patch (HP:0009721); Cortical dysplasias (HP:0002539); Subependymal nodules  (HP:0009716); Cardiac rhabdomyoma (HP:0009729); Epilepsy (HP:0001250) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Seizures seizures Intellectual_dis moderate Protein - Cognitive/Impairment - Development - Owner name Zimeng Ye Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Zimeng Ye Date created 2022-06-01 16:06:47 +02:00 (CEST) Date last edited 2024-06-26 14:29:57 +02:00 (CEST)

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