Global Variome shared LOVD

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Phenotype #0000124299 Individual ID 00151936 Associated disease WHS Phenotype details 9m-onset seizures; status epilepticus; hypoplasia corpus callosum, Cerebellar atrophy; severe developmental delay (DQ30), 9m-head control; height/weight (SD) –3.4/–2.7; tube feeding; submucous cleft palate; atrial septal defect, patent ductus arteriosus; Hydronephrosis; Talipes varus; Strabismus (exotropia), nasolacrimal duct obstruction; no hearing impairment;   Diagnosis/Initial Wolf-Hirschhorn syndrome Inheritance Isolated (sporadic) Diagnosis/Definite WHS Age/Examination 1y11m (1 year, 11 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)

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