Phenotype #0000319044

Individual ID 00428107
Associated disease ?
Diagnosis/Initial paroxysmal non-kinesigenic dyskinesia
Diagnosis/Definite SCA27
Phenotype details see paper; ..., brith 40w, weight 3370 g (75th–90th centile), height 51 cm (75th–90th centile), OFC 32.5 cm (10th–25th centile); 8m-episodic attacks muscle atonus, upward turning both eyes triggered by intense crying (occurred several times a week)
Inheritance Isolated (sporadic)
Age/Examination 03y09m (3 years, 9 months)
Age/Diagnosis -
Age/Onset 00y08m
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 2022-12-21 17:37:30 +01:00 (CET)
Date last edited N/A

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