Global Variome shared LOVD

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Phenotype #0000357149 Individual ID 00472346 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; normal spine; sleep disturbance; no facial dysmorphism; down-slanting palpebral fissures; normal ears; broad nasal bridge; bifid uvula, prominent cupid’s bow; tapered fingers; precocious puberty; no congenital heart defects; history of feeding difficulties Inheritance Isolated (sporadic) Age/Examination 12y (12 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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