Phenotype #0000306861

Individual ID 00415060
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., moderate intellectual disability, delayed speech, normal motor development; 4y-focal impaired awareness seizures; 18y-MRI normal; microcephaly; small for gestational age; no congenital heart defect; no ophthalmologic features
Inheritance Familial, autosomal dominant
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 2022-08-06 22:07:04 +02:00 (CEST)
Date last edited 2022-08-08 15:13:55 +02:00 (CEST)

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