Phenotype #0000175301

Individual ID 00235037
Associated disease GSD2
Phenotype details age onset 35-53y; age analysis unknown; respiratory problems (HP:0002795) (6); mobility problem (HP:0100022) (7); scapular winging (HP:0003691) (7); abnormal cerebral vessels (HP:0100659) (6)/ND (1)
Diagnosis/Initial glycogen storage disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite GSD-2: adult onset
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Pim Pijnappel
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-05-10 13:10:57 +02:00 (CEST)
Date last edited N/A

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