Phenotype #0000269648

Individual ID 00374438
Associated disease ?
Diagnosis/Initial dementia
Diagnosis/Definite -
Phenotype details Reduced social interaction, delayed milestones, aphasia, stuttering and febrile seizures since age of three years. MRI indicative of diffuse neuroparenchymal atrophy, caudate atrophy and mineralization. Abdominal ultrasound suggestive of multiple cysts in both the kidneys and simple cyst in right lobe of liver
Inheritance Familial, autosomal dominant
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-05-24 20:06:48 +02:00 (CEST)
Date last edited N/A

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