Global Variome shared LOVD

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Phenotype #0000243407 Individual ID 00324911 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 41w, weight 4140g (+0.9SD); weight 150kg (+4.1SD), length 180cm (+0.1SD), 10y10m-OFC 57/+2SD); borderline intellectual disability; motor developmental delay; 18m-walk; impaired speech development; impaired receptive language; muscular hypotonia; autistic features; MRI cerebral normal; no attention deficit hyperactivity disorder; no seizures; no strabism; visual impairment; no agressive behaviour; no abnormal respirations; myopia/hyperopia; no hearing impairment; epicanthic folds; no thin upper lip; no dental anomalies; no frontal bossing; no open mouth appearance; deep set eyes; no upslanting palpebral fissures; plagiocephaly; hypoplasia; no broad nasal bridge; no neonatal feeding difficulties; no skeletal anomalies; no gastroesophageal reflux; hydronephrosis Inheritance Isolated (sporadic) Age/Examination 17y (17 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 2020-12-24 16:46:49 +01:00 (CET) Date last edited N/A

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