Phenotype #0000302651

Individual ID 00410548
Associated disease ?
Diagnosis/Initial autism spectrum disorder
Diagnosis/Definite biotidinase deficiency
Phenotype details see paper; ..., onset childhood, motor delay, autism, bilateral vision loss due to bilateral optic neuritis, family history
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
Date created 2022-05-29 10:39:10 +02:00 (CEST)
Date last edited 2022-05-29 10:58:51 +02:00 (CEST)

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