Phenotype #0000349697

Individual ID 00462197
Associated disease NDD
Diagnosis/Initial epilepsy, autism, language delay
Diagnosis/Definite -
Phenotype details see paper; ..., language delay; no fine motor delay; no gross motor delay; no microcephaly; epilepsy; normal muscle tone; autism spectrum disorder; MRI brain abnormal; systemic dysphagia; no tube feeding; no congenital heart disease
Inheritance Unknown
Age/Examination 10y (10 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 2025-02-01 10:13:54 +01:00 (CET)
Date last edited 2025-12-02 13:47:03 +01:00 (CET)

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