Global Variome shared LOVD

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Phenotype #0000203724 Individual ID 00265944 Associated disease TSC Diagnosis/Initial tuberous sclerosis TSC/Features cortical tubers;epilepsy Diagnosis/Definite TSC-1 Inheritance Familial, autosomal dominant Phenotype details index = mild right hemiparesis (HP:0001269);ganglioglioma;optic nerve atrophy (HP:0000648); younger brother = epilepsy from birth;at 3y focal epilepsy (HP:0007359);hypotonia (HP:0008947);global DD (+, HP:0001263);cortical dysplasias (HP:0002539);ADHD (HP:0007018); older brother = cortical tubers (HP:0009717), no other TSC features; mother = seizure in childhood; one facial angiofibroma (HP:0009720); one cortical tuber (HP:0009717) Age/Examination - Age/Diagnosis - Age/Onset 3m Phenotype/Onset - Seizures - Intellectual_dis mild Protein - Cognitive/Impairment - Development - Owner name Rosemary Ekong Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Rosemary Ekong Date created 2019-10-11 19:09:07 +02:00 (CEST) Date last edited N/A

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