Global Variome shared LOVD

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Phenotype #0000347590 Individual ID 00459512 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., OFC 28th; no short stature; mild-moderate intellectual disability; global developmental delay, 2y-walked, lLanguage delay, coordination problem, fine motor delay, tremor, agitation, ADHD; no autistic features; no epilepsy; no movement disorder; genital anomalies, unilateral cryptorchidism; no cardiac anomalies; thin nose, enophthalmia with under-orbital ring, very fine and woolly hair; agenesis bulb/left olfactory sulcus, small optic chiasm, enlargement of the pericerebral spaces, predominantly frontal Inheritance Isolated (sporadic) Age/Examination 7.92y 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 2025-01-06 10:01:48 +01:00 (CET) Date last edited N/A

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