Phenotype #0000337147

Individual ID 00447957
Associated disease NDD
Diagnosis/Initial seizure
Diagnosis/Definite MRD53
Phenotype details see paper; ..., 3m-seizure; focal seizures with apnea or focal clonic seizures; EEG 7m-normal, 2y-multifocal spikes, 10y-fast rhythm; OFC 38.5 cm (+4.3 SD) at birth, 43.5 cm(−1.2 SD) at 9 month, 46.8 cm(−2.1 SD) at 3y 50.0 cm (−2.3 SD) at 13y; 3m-head control, 7m-rolling‐over, no sitting, no words; profound intelletucal disability, periodic irritability, hypotonia; stereotypic movements of extremities; no ataxia; MRI brain 2m/10m/2y-normal; 11y-microcephaly
Inheritance Isolated (sporadic)
Age/Examination 13y (13 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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