Global Variome shared LOVD

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Phenotype #0000325818 Individual ID 00435634 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., motor delay; no speech; intellectual disability; seizures; mild cerebral visual impairment, strabismus; no hypotonia; prominent metopic ridge, talipes equinovarus, prominent xyphoid process, short arms and hand; prominent maxilla/upper lip; micrognathia; long ears Inheritance Isolated (sporadic) Age/Examination 7y (7 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 2023-08-06 22:51:48 +02:00 (CEST) Date last edited N/A

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