Global Variome shared LOVD

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Phenotype #0000333234 Individual ID 00443979 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite - Phenotype details see paper; ..., no prenatal anomalies; short philtrum, tented upper lip; protruding low-set ears; normal hair; retrognathia; motor delay; 16m-turning over; 19m-sit; 4y6m-walks, climbs, difficulty running; speech delay; not yet (syllables); not yet toilet trained; severe intellectual disability; autistic features; hyperactivity; no sleep disturbances; EEG normal; hypotonia; cerebral imaging normal; feeding difficulties; no hearing loss; no strabismus; no congenital heart defect Inheritance Familial, autosomal recessive 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 2023-12-09 16:29:47 +01:00 (CET) Date last edited N/A

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