Global Variome shared LOVD

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Phenotype #0000325681 Individual ID 00435494 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDCFSA Phenotype details see paper; ..., adopted with known history of gestational exposure to multiple drugs; language/speech delay; motor delay; intellectual disability; autism spectrum disorder; behavior problems; psychosis/schizophrenia; uses psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; abnormal movements; no spasticity; ataxia; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; no dysmorphic features; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; vestibular aqueduct dilation; no congenital heart disease; carotid sinus hypermobility; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; recurrent skin infections when younger Inheritance Unknown Age/Examination 19y (19 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 2023-08-03 13:47:25 +02:00 (CEST) Date last edited N/A

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