Global Variome shared LOVD

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Phenotype #0000325724 Individual ID 00435537 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDCFSA Phenotype details see paper; ..., birth 41w; language/speech delay, 48m-first words; no motor delay, 11m-first steps; no autism spectrum disorder; hyperactivity; no psychosis/schizophrenia; no use psychiatric drugs; sleep disturbances, uses melatonine; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; 3y10m-MRI brain normal; joint hypermobility; no syndactyly; no pectus excavatum; midface hypoplasia, sparse in eyebrow, deeply set elanguage/speech delay, wide, short nose, short philtrum, wide mouth, everted lips, anteverted nares; no lip/cleft palate; hypermetropia; recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; Inheritance Unknown Age/Examination 8y11m (8 years, 11 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 2023-08-03 13:47:25 +02:00 (CEST) Date last edited N/A

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