Global Variome shared LOVD

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Phenotype #0000239767 Individual ID 00316022 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth weight 2578 gr (-1.5 SD), OFC 28.5 cm (-3 SD); 19y-OFC 53.5 cm (-1.5 SD); mild-moderate intellectual disability; microcephaly detected during pregnancy; sits9m, crawl-17m, walks26m; anxiety; attention deficit hyperactivity disorder-like; hypertonia limbs, hyperreflexia limbs; dysmetria; intention tremor, hand stereotypies; MRI brain hypoplasia, dysmorphy corpus callosum, unilateral Perisylvian polymicrogyria; 3y-hypertrophic cardiomyopathy; short philtrum, small downturned mouth digitalized thumbs; subclavian vascular ring, cyclic vomiting, strabismus right eye, tonic upward eye movement, mild amblyopia Inheritance Familial, autosomal recessive Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-11-01 12:39:14 +01:00 (CET) Date last edited 2020-11-01 13:06:30 +01:00 (CET)

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