Phenotype #0000342222

Individual ID 00453564
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details see paper; ..., macrocephaly with megalencephaly, periventricular heterotopia and polymicrogyria in MRI; no intellectual disability; speech delay, 3y-first words; no hypotonia; focal epilepsy; no motor problems; no heart defect, ECG RBBB; cafe-au-lait spot, anxiety, sensorineural (left) hearing impairment
Inheritance Isolated (sporadic)
Age/Examination 19y (19 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 2024-09-10 17:46:49 +02:00 (CEST)
Date last edited N/A

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