Global Variome shared LOVD

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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 International 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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