Phenotype #0000338832

Individual ID 00449658
Associated disease NDD
Diagnosis/Initial neurodevelopmental syndrome
Diagnosis/Definite -
Phenotype details see paper; ..., MRI brain anomalies; cardiac anomalies; urogenital anomalies; ophthalmological anomalies; developmental delay; intellectual disability; no autistic features; epilepsy (effectively treated with Levetiracetam); facial dysmorphisms; no hand dysmorphisms; no synophrys; hypotonia; no attention-deficit/hyperactivity disorder
Inheritance Isolated (sporadic)
Age/Examination 5y (5 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 2024-04-29 16:49:29 +02:00 (CEST)
Date last edited N/A

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