Global Variome shared LOVD

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Phenotype #0000236422 Individual ID 00311167 Associated disease ? Diagnosis/Initial microcephaly Diagnosis/Definite - Phenotype details see paper; ..., birth length 48.9 cm, weight 2890 g, OFC 29 cm; length 81 cm (-2.6 SD), OFC 36.1 cm (-12 SD); fullness glabellar region, bitemporal narrowing, prominent eyes and eyelashes, upslanting palpebral fissures; significant developmental delay; MRI brain simplified gyral pattern, dysgenesis of corpus callosum; seizures (controlled); suspected cortical visual impairment; no skeletal abnormalities; feeding difficulties, G-tube; recurrent pneumonia Inheritance Isolated (sporadic) Age/Examination 2y8m (2 years, 8 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-09-20 10:10:24 +02:00 (CEST) Date last edited N/A

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