Global Variome shared LOVD

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Phenotype #0000297031 Individual ID 00404439 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 40w length 51 cm (-0.02 SD)birth 40w length 51 cm (-0.02 SD), weight 3.1 kg (-0.95 SD), OFC 35 cm (-0.16 SD); height 171 cm (-0.95 SD), weight 65 kg (-0.63 SD), OFC 57 cm (-0.15 SD); neonatal/infancy hypotonia; MRI normal; severe intellectual disability, no speech; puffy face, thick upper and lower lip, open mouth; no feeding problems; dermatitis on scalp, face and back; no urogenital anomalies; tapering fingers, pes planus and valgus; no hearing loss; unilateral strabismus surgically corrected; normal haematopoiesis, normal iImmune functioning; smily, calm, affectionate, very rarely upset or angry; lives most of the time in his own world Inheritance Isolated (sporadic) Age/Examination 21y (21 years) 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 2022-03-02 10:20:20 +01:00 (CET) Date last edited N/A

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