Phenotype #0000337148

Individual ID 00447958
Associated disease NDD
Diagnosis/Initial seizure
Diagnosis/Definite MRD53
Phenotype details see paper; ..., 4m-seizure; 4m-epileptic spasms, 8m-focal seizure with apnea, 9m-epileptic spasms; EEG 4m-hypsarrhythmia, 8m-spike and sharp waves predominantly in occipital region, 1y1m-hypsarrhythmia; OFC 33.5 cm (+0.1 SD) at birth, 43.5 cm (+0.7 SD) at 5 month, 50.0 cm (+0.3 SD) at 3y; 4m-social smile, 5m-head control, 14-sitting, 1y8m-walking, no words; profound intelletucal disability, autistic and hyperkinetic behavior; no involuntary movement; no ataxia; MRI brain 4m/3y-normal; elder brother Duane syndrome
Inheritance Isolated (sporadic)
Age/Examination 5y (5 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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