Global Variome shared LOVD

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Phenotype #0000297019 Individual ID 00404427 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth length 47 cm (-2.02 SD)birth length 47 cm (-2.02 SD), weight 2.53 kg (-2.18 SD), OFC 32 cm (-2.52 SD); height 152 cm (-2.81 SD), weight 54.1 kg (-0.71 SD), OFC 52.5 cm (-2.42 SD); no neurological abnormalities; MRI cochlear abnormalities, arhinencephaly; walking at 18 months, language delay,moderate intellectual disability; brachycephaly, smooth philtrum, epicanthic fold; feeding difficulties; no hearing loss; normal vision; normal haematopoiesis, normal iImmune functioning; Inheritance Isolated (sporadic) Age/Examination 16y (16 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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