Global Variome shared LOVD

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Phenotype #0000357155 Individual ID 00472352 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDDFAC Phenotype details see paper; ..., motor delay; global developmental delay; failure to thrive; speech delay; no intellectual disability; no autism; feeding difficulties; sleep disturbances; joint laxity; dolichocephaly, frontal bossing; bilateral epicanthus, depressed nasal bridge, short nose, bulbous nasal tip, long philtrum, narrow mouth with full lips, open mouth, protruding tongue, posteriorly rotated low set ears; hypotonia; MRI brain diffuse thinning corpus callosum Inheritance Isolated (sporadic) Age/Examination 1.75y 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 13:17:49 +01:00 (CET) Date last edited N/A

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