Global Variome shared LOVD

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Phenotype #0000325683 Individual ID 00435496 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDCFSA Phenotype details see paper; ..., no complications pregnancy/delivery; birth 39w; 12m-first words; motor delay, >24m-first steps; mild intellectual disability; no autism spectrum disorder; Tantrums, inattention; no psychosis/schizophrenia; no use psychiatric drugs; history of obstructive sleep apnea; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; neurogenic bladder; tethered cord; MRI brain normal; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; macrocephaly, prominent forehead, wide mouth, slightly prominent anti- helices, joint hypermobility; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, G-tube; no gastroesophageal reflux; chronic constipation; failure to thrive, history of frequent vomiting; no skin hyperlaxity; no genitourinary abnormalities; livedo reticularis Inheritance Isolated (sporadic) Age/Examination 6y (6 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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