Phenotype #0000115998

Individual ID 00143246
Associated disease TSC
Diagnosis/Initial tuberous sclerosis
TSC/Features nodules;rhabdomyoma cardiac;cysts renal
Diagnosis/Definite TSC-2
Inheritance Isolated (sporadic)
Phenotype details bilateral SEN and multiple cardiac rhabdomyoma in patient, single dental pit (HP:0009722) and ambiguous pigmentory change in one parent; renal cysts
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 04:20:58 +02:00 (CEST)
Date last edited 2020-06-19 09:19:04 +02:00 (CEST)

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