Global Variome shared LOVD

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Phenotype #0000347582 Individual ID 00459504 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., OFC 32nd; no short stature; intellectual disability; developmental delay, very severe deficiency, hypotonia, no walk, no speech, cortical blindness; no autistic features; epilepsy; movement disorder; genital anomalies, micropenis; no cardiac anomalies; mild bitemporal retraction, anteverted lobule of ears, small mouth; dystony Inheritance Isolated (sporadic) Age/Examination 2.5y 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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