Global Variome shared LOVD

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Phenotype #0000124295 Individual ID 00151932 Associated disease WHS Phenotype details 7m-onset seizures; status epilepticus; Ventricular enlargement; severe developmental delay, 2y-head contro; height/weight (SD) -11.7/-5.3; tube feeding; cleft lip/cleft palate; pulmonary stenosis; Renal hypoplasia, renal failure; Scoliosis (mild); Strabismus (exotropia); severe hearing impairment;   Diagnosis/Initial Wolf-Hirschhorn syndrome Inheritance Isolated (sporadic) Diagnosis/Definite WHS Age/Examination 16y (16 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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