Global Variome shared LOVD

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Phenotype #0000321945 Individual ID 00431345 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., microcephaly; height -1SD; moderate developmental delay; 22m-walk; no speech; prepubertal; mild dysmorphism; no hypotonia; no spasticity/hypertonia; no movement disorder; aggressivity, stereotypy, sleeping disorder; 6m-febrile seizures; MRI brain normal; no skeletal anomalies; normal reproductive organs; no ophthalmic anomalies Inheritance Familial, autosomal recessive Age/Examination 3y7m (3 years, 7 months) 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 2023-02-09 10:08:23 +01:00 (CET) Date last edited N/A

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