Global Variome shared LOVD

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Phenotype #0000236423 Individual ID 00311168 Associated disease ? Diagnosis/Initial microcephaly Diagnosis/Definite - Phenotype details see paper; ..., length 77 cm (-2.4 SD), OFC 35 cm (-4.4 SD); no facial dysmorphism; significant developmental delay; seizures (controlled), hypotonia; mild scoliosis; no gastro-intestinal abnormalities Inheritance Familial, autosomal dominant Age/Examination 1y8m (1 year, 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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