Global Variome shared LOVD

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Phenotype #0000124288 Individual ID 00151925 Associated disease WHS Phenotype details 1y1m-onset seizures; no status epilepticus; moderate developmental delay, 4y-walking; height/weight (SD) -3.8/-2.9; oral feeding; no cleft lip/cleft palate; atrial septal defect; no skeletal abnormality; Strabismus; no hearing impairment; Hypercholesterolemia Diagnosis/Initial Wolf-Hirschhorn syndrome Inheritance Isolated (sporadic) Diagnosis/Definite WHS Age/Examination 5y10m (5 years, 10 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-01-28 09:38:22 +01:00 (CET) Date last edited 2018-01-28 10:21:36 +01:00 (CET)

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