Phenotype #0000203720

Individual ID 00265941
Associated disease TSC
Diagnosis/Initial -
TSC/Features dysplasias cortical;macules hypomelanotic
Diagnosis/Definite TSC-1
Inheritance Familial, autosomal dominant
Phenotype details 41y mother = focal seizures (HP:0007359);subependymal nodules (HP:0009716). maternal grandfather = epilepsy
Age/Examination -
Age/Diagnosis 18y
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 2019-10-11 19:09:07 +02:00 (CEST)
Date last edited N/A

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