Phenotype #0000340312

Individual ID 00451651
Associated disease BTDD
Phenotype details Mild intellectual disability, Poor visual, Nerve optic atrophy, Pectus excavatum.
Diagnosis/Initial Biotinidase deficiency
Inheritance Familial, autosomal recessive
Diagnosis/Definite Biotinidase deficiency
Age/Examination -
Age/Diagnosis 05y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Miriam Erandi Reyna-Fabián
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Miriam Erandi Reyna-Fabián
Date created 2024-06-20 21:41:13 +02:00 (CEST)
Date last edited 2024-06-28 09:54:56 +02:00 (CEST)

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