Global Variome shared LOVD

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Phenotype #0000325703 Individual ID 00435516 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDCFSA Phenotype details see paper; ..., no complications pregnancy/delivery; birth 37w+2d; language/speech delay, 24m-first words; motor delay, 22m-first steps; mild intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; nose tip upright; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism Inheritance Isolated (sporadic) Age/Examination 4y (4 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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