Phenotype #0000340316

Individual ID 00451655
Associated disease GSD1B
Phenotype details Intellectual disability, Microcephaly, Abnormal hepatic glycogen storage, Pancreatitis
Diagnosis/Initial Glycogen storage disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite Glycogen storage disease Ib
Age/Examination -
Age/Diagnosis 11y
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 2024-06-21 21:33:40 +02:00 (CEST)
Date last edited 2024-06-28 10:18:49 +02:00 (CEST)

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