Phenotype #0000357154

Individual ID 00472351
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDDFAC
Phenotype details see paper; ..., delayed motor development; deleyed language development; intellectual disability; recurrent, seizures (alleviated by valproic acid treatment); bilateral brain atrophy, hydrocephaly, bilateral ventriculomegaly; craniofacial malformation; small eye fissure, wide eye distance; low-set ears; flat nasal bridge, short upturned nose; normal mouth; congenital heart defects
Inheritance Isolated (sporadic)
Age/Examination 5y10m (5 years, 10 months)
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 2026-02-03 13:08:39 +01:00 (CET)
Date last edited N/A

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