Phenotype #0000269551

Individual ID 00374341
Associated disease ?
Diagnosis/Initial epilepsy
Diagnosis/Definite -
Phenotype details Febrile encephalopathy, neuroregression, seizures, cherry red spot, hepatomegaly, macrocephaly and coarse facies
Inheritance Familial, autosomal recessive
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