Phenotype #0000214847

Individual ID 00280266
Associated disease TSC
Diagnosis/Initial tuberous sclerosis
TSC/Features -
Diagnosis/Definite -
Inheritance Familial, autosomal dominant
Phenotype details epilepsy; dysplasias cortical; nodules; macules hypomelanotic; 2y onset seizures; index = single hypomelanotic macule (HP:0009719); affected parent = cortical dysplasias (HP:0002539)
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 2015-08-12 16:03:07 +02:00 (CEST)
Date last edited 2019-12-11 21:17:02 +01:00 (CET)

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