Phenotype #0000115987

Individual ID 00143235
Associated disease TSC
Diagnosis/Initial tuberous sclerosis
TSC/Features angiomyolipomas;cortical tubers;epilepsy;macules hypomelanotic;nodules;rhabdomyoma cardiac
Diagnosis/Definite TSC-2
Inheritance Familial, autosomal dominant
Phenotype details Son has macrocephaly (HP:0000256), hypotonia; Father has facial angiofibroma (HP:0009720), ungual fibroma (HP:0100804), renal angiomyolipoma (HP:0006772), renal cysts (HP:0000107), severe renal problems with hematuria (HP:0000790), hypomelanotic macules (HP:0009719), buccal fibroma (HP:0000169), multiple dental pits (HP:0009722), seizures (HP:0001250), normal intelligence
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Seizures seizures
Intellectual_dis mild
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 2005-02-26 17:00:00 +01:00 (CET)
Date last edited 2024-08-21 19:27:01 +02:00 (CEST)

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