Global Variome shared LOVD

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Phenotype #0000307720 Individual ID 00415949 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., severe autism spectrum disorder, borderline delayed cognition, anxiety, attention-deficit/hyperactivity disorder combined type; normal sit, normal walk; no speech, no epilepsy; high pain tolerance, sensitive touch; fine motor coordination deficits; triangular shaped head, hypertelorism, almond-shaped eyes, posteriorly rotated ears, low set ears, epicanthal folds; allergic rhinitis, sinusitis Inheritance Familial, autosomal recessive 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 2022-08-19 10:27:23 +02:00 (CEST) Date last edited N/A

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