Global Variome shared LOVD

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Phenotype #0000307195 Individual ID 00415401 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details 38w 2/7-birth C-section, weight 2630g (-1.7); 20gw-intrauterine growth retardation; height 73cm (-2.01), weight 7.9Kg (-1.83), OFC 43,8cm (-2.59), BMI 14.8 (-1.04); delayed bone age; turned only once at 6m; 17m-walking while holding on to table; not toilet trained; dependent for all cares; initially poor eye contact, later improved; content, quiet; no seizures; 10m-MRI brain/spinal normal; mild hypotonia; no hearing loss; no ophthalmological abnormalities; no cardiovascular abnormalities, normal US and ECG (anamnestic); neonatal feeding difficulties, gastro-esophageal reflux; no genitourinary abnormalities, normal external genitalia; basic metabolic test was negative; no skeletal/limb abnormalities; mild synophrys, upwards slanting palpebral fissures, 1 café au lait spot Inheritance Isolated (sporadic) Age/Examination 1y4m (1 year, 4 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 2022-08-13 16:30:49 +02:00 (CEST) Date last edited N/A

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