Phenotype #0000298727

Individual ID 00406229
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., DNA methylation BAFopathy, neonatal hypotonia, transient feeding difficulties, developmental delay (30m-walk independently, speech delay), mild intellectual disability (7y6m-IQ 73, verbal comprehension 84, perceptual reasoning 75, working memory 82, processing speed 76), behavioural problems (tantrums, ADHD), epilepsy, progressive obesity
Inheritance Familial, autosomal dominant
Age/Examination 9y (9 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 2022-03-25 18:43:34 +01:00 (CET)
Date last edited N/A

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