Global Variome shared LOVD

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Phenotype #0000243409 Individual ID 00324913 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 38wweight 2098g (-2.6SD) length 40.5cm (-4.3SD) ; weight 20,4kg (-1.8SD), length 122cm (-1.2SD), OFC 48cm (-3.4SD); intellectual disability; motor developmental delay; 26m-walk; impaired speech development; impaired receptive language; no muscular hypotonia; no autistic features; MRI cerebral normal; no gait abnormalities; attention deficit hyperactivity disorder; no seizures; strabism; no visual impairment; no agressive behaviour; no abnormal respirations; myopia astigmatism; no hearing impairment; no epicanthic folds; thin upper lip; misaligned and yellow teeth, large two central incisors; no frontal bossing; open mouth appearance; no deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; no broad nasal bridge; no neonatal feeding difficulties; 5th finger bilateral camptodactyly and clinodactyly; gastroesophageal reflux; bilateral supernumerary nipple, synophrys Inheritance Isolated (sporadic) Age/Examination 8y (8 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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