Phenotype #0000124294

Individual ID 00151931
Associated disease WHS
Phenotype details 6m-onset seizures; status epilepticus; no CNS complications; severe developmental delay (DQ10), 4y-sitting; height/weight (SD) -4.1/-3.3; tube feeding; submucous cleft palate; AR; no urogenital defect; Strabismus, nasolacrimal duct obstruction; no hearing impairment;  
Diagnosis/Initial Wolf-Hirschhorn syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite WHS
Age/Examination 8y (8 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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