Global Variome shared LOVD

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Phenotype #0000116517 Individual ID 00038388 Associated disease TSC Diagnosis/Initial definite tuberous sclerosis TSC/Features - Diagnosis/Definite TSC Inheritance Isolated (sporadic) Phenotype details cortical tubers, angiomyolipomas (≥2, HP:0006772);cardiac rhabdomyoma (HP:0009729);hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719);Shagreen patch (HP:0009721);subependymal giant cell astrocytoma (HP:0009718) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Seizures - Intellectual_dis - Protein - Cognitive/Impairment - Development - Owner name Sonal Desai Database submission license No license selected Created by Sonal Desai Date created 2015-05-07 19:41:49 +02:00 (CEST) Date last edited 2019-10-12 13:08:55 +02:00 (CEST)

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