Phenotype #0000213729

Individual ID 00279148
Associated disease TSC
Diagnosis/Initial tuberous sclerosis
TSC/Features -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details macules hypomelanotic; cortical tuber, nodules; rhabdomyoma cardiac; infantile spasm; one parent has normal skin but TS lesion on CT
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Seizures -
Intellectual_dis -
Protein -
Cognitive/Impairment -
Development -
Owner name Rosemary Ekong
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Rosemary Ekong
Date created 2014-07-01 10:44:45 +02:00 (CEST)
Date last edited 2014-07-01 17:08:23 +02:00 (CEST)

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