Phenotype #0000232084

Individual ID 00306235
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Neurodevelopmental disorder with epilepsy, spasticity, brain atrophy, and regression (OMIM #618741)
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Marcello Scala
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Marcello Scala
Date created 2020-07-11 19:16:31 +02:00 (CEST)
Date last edited 2020-07-14 21:14:11 +02:00 (CEST)

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