Global Variome shared LOVD

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Phenotype #0000124290 Individual ID 00151927 Associated disease WHS Phenotype details 6m-onset seizures; status epilepticus; no CNS complications; severe developmental delay (IQ10), 7y-walking; height/weight (SD) -5.1/-2.5; oral feeding; no cleft lip/cleft palate; pulmonary stenosis; Renal hypoplasia, renal failure; Pes planus; no ophthalmologic abnormality; moderate hearing impairment; Hypercholesterolemia, hyperuricemia 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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