Global Variome shared LOVD

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Phenotype #0000357148 Individual ID 00472345 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDDFAC Phenotype details see paper; ..., gross motor delay; no speech (non-verbal); severe intellectual disability; autistic features; no seizures; spina bifida, tethered cord; sleep disturbance; thin corpus callosum; decreased white matter volume; frontal bossing, dolichocephaly; hypertelorism, epicanthal folds; ears thick helices, slightly posteriorly rotatedears, low-set ears; normal nose; normal mouth; no precocious puberty; no congenital heart defects; constipation; dermatographia Inheritance Isolated (sporadic) Age/Examination 8y (8 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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