Global Variome shared LOVD

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Phenotype #0000243408 Individual ID 00324912 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details weight 76.5kg (+2.9SD), length 154cm (0SD), OFC 54.8/+0.5SD); intellectual disability (IQ 47); motor developmental delay; 27m-walk; impaired speech development; muscular hypotonia; gait abnormalities; no strabism; no visual impairment; no abnormal respirations; myopia/hyperopia; no hearing impairment; no epicanthic folds; no thin upper lip; malocclusion of teeth; no frontal bossing; no 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 gastroesophageal reflux Inheritance Isolated (sporadic) Age/Examination 12y9m (12 years, 9 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 2020-12-24 16:46:49 +01:00 (CET) Date last edited N/A

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