Global Variome shared LOVD

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Phenotype #0000124305 Individual ID 00151942 Associated disease WHS Phenotype details 2m-onset seizures; status epilepticus; HCC, Grey matter heterotopia, white matter volume loss; severe developmental delay (DQ10), no head control; height/weight (SD) –1.3/–1.4; feeding gastrostomy; no cleft lip/cleft palate; atrial septal defect; renal dysplasia, renal failure, cryptorchidism, hypospadias; no skeletal abnormality; Cataract, coloboma; severe hearing impairment; Diagnosis/Initial Wolf-Hirschhorn syndrome Inheritance Isolated (sporadic) Diagnosis/Definite WHS Age/Examination 6y (6 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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