Global Variome shared LOVD

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Phenotype #0000236419 Individual ID 00311164 Associated disease ? Diagnosis/Initial microcephaly Diagnosis/Definite - Phenotype details see paper; ..., birth length 46 cm, weight 2610 g, OFC 25 cm; length 122 cm (-2.7 SD), OFC 42 cm (-6.8 SD); no facial dysmorphism; moderate to severe developmental delay/intellectual disability; MRI small brain, normal structures; no neurological abnormalities; no visual impairment; no skeletal abnormalities; feeding difficulties Inheritance Isolated (sporadic) Age/Examination 9y6m (9 years, 6 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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