Global Variome shared LOVD

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Phenotype #0000124300 Individual ID 00151937 Associated disease WHS Phenotype details 1y-onset seizures; status epilepticus; hypoplasia corpus callosum; severe developmental delay (IQ10), 5y-walking; height/weight (SD) –5.3/–3.8; oral feeding; no cleft lip/cleft palate; atrial septal defect; Renal hypoplasia, renal failure; Acetabular dysplasia; Cataract; no hearing impairment; Hypercholesterolemia Diagnosis/Initial Wolf-Hirschhorn syndrome Inheritance Isolated (sporadic) Diagnosis/Definite WHS Age/Examination 18y (18 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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