Phenotype #0000209236

Individual ID 00274291
Associated disease epilepsy
Phenotype details intractable seizures, developmental delay, central hypotonia

biotinidase deficiency not related to neurodevelopmental disorders
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Examination 00y04m (4 months)
Age/Diagnosis -
Age/Onset 00y14m
Phenotype/Onset -
Protein -
Owner name Marketa Wayhelova
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Marketa Wayhelova
Date created 2019-12-28 07:08:17 +01:00 (CET)
Date last edited 2019-12-29 16:09:44 +01:00 (CET)

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