Phenotype #0000116005

Individual ID 00143253
Associated disease TSC
Diagnosis/Initial tuberous sclerosis
TSC/Features facial angiofibromas;cortical tubers;hypomelanotic macules;nodules;cysts renal
Diagnosis/Definite TSC-2;PKD-1
Inheritance Unknown
Phenotype details speech delayed (HP:0000750), polycystic kidney disease (PKD-1, HP:0000113)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Seizures 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 2019-10-12 13:16:12 +02:00 (CEST)

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