Global Variome shared LOVD

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Phenotype #0000307043 Individual ID 00415245 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details 25m-died; 39w cardiopathy, birth weight 3,040 g (-0.8 SD), length 49.5 cm (-0.2 SD), OFC 34.1 cm (-0.8 SD); neonatal hypotonia; 22m-height 79.2 cm (-2.5 SD), weight 10 kg (-2 SD), OFC 43.6 cm (-3.5SD); not sitting; not walking; no speech; happy demeanor; generalized epilepsy with hyperextension of upper limbs; severe hypotonia; MRI brain 1y-cortical atrophy, enlarged ventricles, thin corpus callosum; Shone syndrome with aortic coarctation, bicuspid aortic valve, tricuspid-valve insufficiency, atrial septal defect, ventricular septal defect; nystagmus, strabismus, severe myopia; recurrent infections, 25m-died from pneumonia Inheritance Familial, autosomal recessive Age/Examination 25m Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-08-10 16:14:56 +02:00 (CEST) Date last edited N/A

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