Global Variome shared LOVD

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Phenotype #0000236421 Individual ID 00311166 Associated disease ? Diagnosis/Initial microcephaly Diagnosis/Definite - Phenotype details see paper; ..., birth length 42 cm, weight 2190 g, OFC 28 cm (35w); length 92 cm (-4.8 SD), OFC 36.5 cm (-12 SD); prominent nasal root, protruding tongue; severe developmental delay/intellectual disability; MRI brain pachygyria, thin corpus callosum; spasticity limbs, inability to walk; no visual impairment; scoliosis; feeding difficulties; patent foramen ovale Inheritance Isolated (sporadic) Age/Examination 5y7m (5 years, 7 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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