Phenotype #0000357153

Individual ID 00472350
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDDFAC
Phenotype details see paper; ..., 10y-deceased; delayed motor development; deleyed language development; intellectual disability; seizures; bilateral cerebral atrophy, bilateral frontotemporal extracranial space widening, multiple small cysts corpus callosum; OFC increased, scaphocephaly, prominent forehead; normal eyes; large ears; impaired hearing; flat nasal bridge; thick lips; congenital heart defects
Inheritance Isolated (sporadic)
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 2026-02-03 13:08:39 +01:00 (CET)
Date last edited N/A

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