Phenotype #0000337150

Individual ID 00447960
Associated disease NDD
Diagnosis/Initial developmental delay
Diagnosis/Definite MRD54
Phenotype details see paper; ..., 1y-developmental delay; 1y11m-open eyelid with akinesia when fallen asleep; 2y-open eyelid with eye deviation followed by clonic hemiconvulsion during asleep; EEG spikes in frontal region (2y and 7y); OFC 32.5 cm(−0.6 SD) at birth, (and 47.5 cm(−2.3 SD) at 5y; 1y7m-walk, 2y-words; mild intelletucal disability, mild hypotonia; no involuntary movement; episodic ataxia; MRI brain 4y-normal; elder brother febrile seizure
Inheritance Isolated (sporadic)
Age/Examination 7y (7 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 2024-02-05 12:29:02 +01:00 (CET)
Date last edited N/A

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