Global Variome shared LOVD

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Phenotype #0000236425 Individual ID 00311170 Associated disease ? Diagnosis/Initial microcephaly Diagnosis/Definite - Phenotype details see paper; ..., birth length 48 cm, weight 2700 g, OFC 27.5 cm; length 125.34 cm (-2.5 SD), OFC 39 cm (-10 SD); gingival hypertrophy; severe developmental delay/intellectual disability; MRI brain simplified gyral pattern; seizures (controlled), severe axial hypotonia, spastic tetraparesis, no language or communication; cortical visual impairment; severe scoliosis; feeding difficulties, G-tube; recurrent pneumonia Inheritance Familial, autosomal dominant Age/Examination 10y6m (10 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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