Global Variome shared LOVD

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Phenotype #0000124286 Individual ID 00151923 Associated disease WHS Phenotype details 1y3m-onset seizures; no status epilepticus; no CNS complications; severe developmental delay/no sitting; height/weight (SD) -5.3/-2.3; tube feeding; no cleft lip/cleft palate; no heart defect; no urogenital defect; no skeletal abnormality; no ophthalmologic abnormality; severe hearing impairment; hypercholesterolemia Diagnosis/Initial Wolf-Hirschhorn syndrome Inheritance Isolated (sporadic) Diagnosis/Definite WHS Age/Examination 1y8m (1 year, 8 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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