Global Variome shared LOVD

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

Phenotype #0000124287 Individual ID 00151924 Associated disease WHS Phenotype details 7m-onset seizures; status epilepticus; Periventricular leukomalacia; severe developmental delay/no head control; height/weight (SD) -4.3/-3.0; tube feeding; no cleft lip/cleft palate; atrial septal defect, patent ductus arteriosus, ventricular septal defect; Limited hip flexion; Strabismus; moderate hearing impairment;   Diagnosis/Initial Wolf-Hirschhorn syndrome Inheritance Isolated (sporadic) Diagnosis/Definite WHS Age/Examination 4y3m (4 years, 3 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)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.