Phenotype #0000221931

Individual ID 00288194
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details facial diplegia, nystagmus, flexion contracture, hypertonia, limitation of joint mobility, gastroparesis, dysphagia, cognitive impairment, dysarthria, absent speech, ataxia, spasticity, tetraplegia, inability to walk, myoclonus, slurred speech, cerebral palsy, cerebral atrophy, brainstem morphology
Inheritance Isolated (sporadic)
Age/Examination 20y (20 years)
Age/Diagnosis -
Age/Onset -
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 2020-02-16 14:03:09 +01:00 (CET)
Date last edited N/A

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