Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000124301 Individual ID 00151938 Associated disease WHS Phenotype details 1y2m-onset seizures; status epilepticus; no CNS complications; severe developmental delay/, head control; height/weight (SD) –5.6/–4.0; tube feeding; no cleft lip/cleft palate; atrial septal defect, pulmonary stenosis; Renal hypoplasia, renal failure; Sagittal craniosynostosis; Coloboma; no hearing impairment; Hypercholesterolemia Diagnosis/Initial Wolf-Hirschhorn syndrome Inheritance Isolated (sporadic) Diagnosis/Definite WHS Age/Examination 3y (3 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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