Phenotype #0000132918

Individual ID 00168052
Associated disease CDG
Diagnosis/Initial congenital disorders of glycosylation
Diagnosis/Definite SPDRS
Phenotype details includes syndromes previously referred to as SPDRS (salt & pepper develpmental regression syndrome) and Amish type Epilepsy.
HP:0002133, HP:0000252, HP:0100704, HP:0001034, HP:0008972, HP:0002151
Inheritance Familial, autosomal recessive
Age/Examination 00y04m? (approximately 4 months)
Age/Diagnosis 10y
Age/Onset 00y04m?
Phenotype/Onset HP:0001508, HP:0001252, HP:0000365, HP:0000737
Protein -
Owner name Marco Trinchera
Database submission license No license selected
Created by Johan den Dunnen
Date created 2018-07-18 09:10:09 +02:00 (CEST)
Date last edited 2024-11-21 10:11:43 +01:00 (CET)

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