Phenotype #0000038739

Individual ID 00052120
Associated disease KLEFS
Intellectual_dis severe
Diagnosis/Initial -
Phenotype details 9q subtelomeric deletion syndrome; weight 90th, height 75th, OFC 90th; childhood hypotonia, facial dysmorphism; pulmonary stenosis, no epilepsy; 8y-glue ear requiring grommets, hypermobile joints, delayed secondary dentition; MRI-normal myelination, normal ventricles, some prominence of sylvian fissures with frontal lobe hypoplasia; trusting and friendly personality; walk-3y, 7y cannot run, unable to ride bicycle; some speech, in general 'signs'
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Age/Examination 07y (7 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth_Details weight 4100 (90th)
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 12:01:24 +02:00 (CEST)
Date last edited N/A

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