Global Variome shared LOVD

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Phenotype #0000124303 Individual ID 00151940 Associated disease WHS Phenotype details 1m-onset seizures; no status epilepticus; Cerebral atrophy; severe developmental delay, no head control; height/weight (SD) –3.3/–2.6; tube feeding; no cleft lip/cleft palate; patent ductus arteriosus, ventricular septal defect; Renal hypoplasia, vesicoureteric reflux; no skeletal abnormality; no ophthalmologic abnormality; moderate hearing impairment;   Diagnosis/Initial Wolf-Hirschhorn syndrome Inheritance Isolated (sporadic) Diagnosis/Definite WHS Age/Examination 4y (4 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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