Global Variome shared LOVD

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Phenotype #0000124284 Individual ID 00151921 Associated disease WHS Phenotype details 9m-onset seizures; no status epilepticus; no CNS complications; moderate developmental delay (DQ41), 2y3m-walking; height/weight (SD) -2.4/-2.0; oral feeding; no cleft lip/cleft palate; atrial septal defect; no urogenital defect; no skeletal abnormality; Strabismus; no hearing impairment;   Diagnosis/Initial Wolf-Hirschhorn syndrome Inheritance Isolated (sporadic) Diagnosis/Definite WHS Age/Examination 6y (6 years) 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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