Phenotype #0000038742

Individual ID 00052123
Associated disease KLEFS
Intellectual_dis -
Diagnosis/Initial -
Phenotype details 9q subtelomeric deletion syndrome; childhood hypotonia, facial dysmorphism; ventricular septum defect aortic coarctation, no epilepsy, micropenis, cryptorchidism, vesico-ureteral reflux, hearing loss inguinal, peri-umbilical and epigastric hernia, MRI-mildly dilated ventricles, reduction in white matter volume; frustration and tantrums; severely delayed; speech only few words, uses signing and picture cards
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Age/Examination 04y (4 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth_Details weight 3200 (25th), OFC 33cm (2nd)
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 2015-10-16 12:32:12 +02:00 (CEST)
Date last edited N/A

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