Global Variome shared LOVD

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Phenotype #0000243400 Individual ID 00324904 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 42w, weight 4160g (+0.78SD), length 55cm (+0.67SD),, OFC 35cm (-0.79SD); weight 60,3/+0,2SD), length 178/+0,1SD), OFC 55cm (-0.3SD); intellectual disability; motor developmental delay; 18m-walk; impaired speech development; impaired receptive language; no muscular hypotonia; autistic features; MRI cerebral normal; gait dyskinetic; no attention deficit hyperactivity disorder; no seizures; no strabism; no visual impairment; no agressive behaviour; no abnormal respirations; no 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; no congenital anomalies of the skull; no helix anomalies; no broad nasal bridge; no neonatal feeding difficulties; no skeletal anomalies; no gastroesophageal reflux; no heart anomalies Inheritance Isolated (sporadic) Age/Examination 16y (16 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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