Phenotype #0000357151

Individual ID 00472348
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDDFAC
Phenotype details see paper; ..., gross motor delay; speech delay; mild-moderate intellectual disability; simple partial seizures; normal spine; no sleep disturbance; thin corpus callosum; decreased white matter volume; plagiocephaly; normal eyes; cupped ears, dysplastic ears; normal nose; normal mouth; right facial palsy; no precocious puberty; congenital heart defects; G-tube placement; torticollis; hydronephrosis; mixed hearing loss
Inheritance Isolated (sporadic)
Age/Examination 2y (2 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 12:00:08 +01:00 (CET)
Date last edited N/A

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