Phenotype #0000231768

Individual ID 00305920
Associated disease NDD
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details see paper; ..., facial dysmorphism; axial hypotonia; 8m-sit; 15m-walk; speech delay; still walking; 17y-regression onset; dystonia; ataxia; pyramidal syndrome, cerebellar dysarthria, slow dysmetric eye saccades; 7m-spasm, myoclonus seizures, 17y-myoclony seizures; EEG spikes and waves; no atrophy; no periventricular anomalies; muscle biopsy normal
Inheritance Isolated (sporadic)
Age/Examination 23y (23 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2020-07-05 16:30:04 +02:00 (CEST)
Date last edited 2020-07-05 17:04:51 +02:00 (CEST)

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