Phenotype #0000169479

Individual ID 00224364
Associated disease TSC
Diagnosis/Initial tuberous sclerosis
TSC/Features -
Diagnosis/Definite TSC-2
Inheritance Familial, autosomal dominant
Phenotype details index has epilepsy, facial angiomyolipoma, sub-ungual fibroma, brain scan changes consistent with TS, no LD; affected parent has nocturnal epilepsy; affected sibling has nocturnal epilepsy, facial rash, LD
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 02:56:14 +02:00 (CEST)
Date last edited 2014-07-01 14:04:19 +02:00 (CEST)

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