Global Variome shared LOVD

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

Phenotype #0000116515 Individual ID 00038391 Associated disease TSC Diagnosis/Initial definite tuberous sclerosis TSC/Features - Diagnosis/Definite TSC Inheritance Unknown Phenotype details angiofibromas (≥3, HP:0010615) or fibrous cephalic plaque;angiomyolipomas (≥2, HP:0006772);cardiac rhabdomyoma (HP:0009729);hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719);multiple renal cysts (HP:0000107);multiple retinal hamartomas (HP:0009594);nonrenal hamartomas;subependymal nodules (HP:0009716) 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 20:06:29 +02:00 (CEST) Date last edited 2019-10-12 13:16:12 +02:00 (CEST)

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