Global Variome shared LOVD

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

Phenotype #0000124298 Individual ID 00151935 Associated disease WHS Phenotype details 8m-onset seizures; status epilepticus; Ventricular enlargement; severe developmental delay; height/weight (SD) -2.0/-2.3; oral feeding; no cleft lip/cleft palate; atrial septal defect, pulmonary stenosis; Criptorchidism; no skeletal abnormality; moderate hearing impairment;   Diagnosis/Initial Wolf-Hirschhorn syndrome Inheritance Isolated (sporadic) Diagnosis/Definite WHS Age/Examination 9m 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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