Global Variome shared LOVD

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Phenotype #0000351338 Individual ID 00465938 Associated disease NDD Diagnosis/Initial neurodegenerative delay Diagnosis/Definite DEDISB Phenotype details see paper; ..., motor delay; speech delay; moderate delay; behavioral problems; autism spectrum disorders; mild intellectual disability; no neurological features; no neurosensory disorders; MRI mild myelination delay; frontal bossing, triangular face, facial hypertrichosis, pointed frontal hairline, thick eyebrows, short philtrum, protruding incisor teeth, generalized hirsutism, long face, wide mouth, low-set large ears; no epilepsy Inheritance Isolated (sporadic) Age/Examination 10y (10 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 2025-06-20 11:45:26 +02:00 (CEST) Date last edited N/A

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