Global Variome shared LOVD

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Phenotype #0000041514 Individual ID 00054838 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details ID not formally assessed due to young age; Speech delay; motor delay; sleep disturbances; lack of eye contact at the age of 1 yr; oral hypotonia; hypotonia;recurrent respiratory infections; pedes plano valgi; large frontal fontanel; MRI/CT: normal; born after 37w of uncomplicated pregnancy with normal birth weight; speech delay (HP:0000750) Age/Examination 00y17m (17 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Lisenka Vissers Database submission license No license selected Created by Lisenka Vissers Date created 2015-11-27 14:25:24 +01:00 (CET) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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