Global Variome shared LOVD

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Phenotype #0000124304 Individual ID 00151941 Associated disease WHS Phenotype details 11m-onset seizures; status epilepticus; Cerebral atrophy; severe developmental delay; height/weight (SD) –2.3/–3.1; feeding gastrostomy; cleft palate; atrial septal defect, patent ductus arteriosus; ureteropelvic junction stenosis, renal failure; Talipes varus Cervical spine abnormalities; no ophthalmologic abnormality; severe hearing impairment;   Diagnosis/Initial Wolf-Hirschhorn syndrome Inheritance Isolated (sporadic) Diagnosis/Definite WHS Age/Examination 2y10m (2 years, 10 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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