Phenotype #0000274241

Individual ID 00380390
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details intellectual disability, developmental delay; ataxia; resolved hypotonia; no hypertonia; strabismus; definitive seizures not observed, but did exhibit single event during which he became unresponsive and his eyes deviated upward; abnormal myelination
Inheritance Isolated (sporadic)
Age/Examination 12y (12 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 2021-08-13 20:56:20 +02:00 (CEST)
Date last edited N/A

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