Global Variome shared LOVD

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

Phenotype #0000115987 Individual ID 00143235 Associated disease TSC Diagnosis/Initial tuberous sclerosis TSC/Features angiomyolipomas;cortical tubers;epilepsy;macules hypomelanotic;nodules;rhabdomyoma cardiac Diagnosis/Definite TSC-2 Inheritance Familial, autosomal dominant Phenotype details Son has macrocephaly (HP:0000256), hypotonia; Father has facial angiofibroma (HP:0009720), ungual fibroma (HP:0100804), renal angiomyolipoma (HP:0006772), renal cysts (HP:0000107), severe renal problems with hematuria (HP:0000790), hypomelanotic macules (HP:0009719), buccal fibroma (HP:0000169), multiple dental pits (HP:0009722), seizures (HP:0001250), normal intelligence Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Seizures seizures Intellectual_dis mild Protein - Cognitive/Impairment - Development - Owner name Rosemary Ekong Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Rosemary Ekong Date created 2005-02-26 17:00:00 +01:00 (CET) Date last edited 2024-08-21 19:27:01 +02:00 (CEST)

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