Phenotype #0000232627

Individual ID 00306799
Associated disease TSC
Diagnosis/Initial tuberous sclerosis
TSC/Features macules hypomelanotic;epilepsy;rhabdomyoma cardiac;angiomyolipomas;dental pits;angiofibromas facial;skin lesions;nodules;cortical tubers
Diagnosis/Definite TSC-2
Inheritance Isolated (sporadic)
Phenotype details Bilateral renal angiomyolipomas; Anxiety (HP:0000739); Obsessive-compulsive behavior (HP:0000722); pulmonary cysts (HP:0005948)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Seizures seizures
Intellectual_dis -
Protein -
Cognitive/Impairment -
Development global
Owner name Rosemary Ekong
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Rosemary Ekong
Date created 2020-07-20 14:30:39 +02:00 (CEST)
Date last edited N/A

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