Global Variome shared LOVD

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

Phenotype #0000124285 Individual ID 00151922 Associated disease WHS Phenotype details 2y6m-onset seizures; no status epilepticus; severe developmental delay (IQ23), 7y-walking; height/weight (SD) -5.4/-3.5; oral feeding; no cleft lip/cleft palate; atrial septal defect; Scoliosis (mild); no ophthalmologic abnormality; no hearing impairment; Multiple osteochondromatosis Diagnosis/Initial Wolf-Hirschhorn syndrome Inheritance Isolated (sporadic) Diagnosis/Definite WHS Age/Examination 13y (13 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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