Global Variome shared LOVD

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Phenotype #0000230566 Individual ID 00303488 Associated disease THC Diagnosis/Initial thrombocytopenia Diagnosis/Definite TKS Phenotype details see paper; ..., birth 39w, weight 2,980 g (±0.0 SD), length 50 cm (+0.6 SD); arched eyebrows, mild ptosis, eversion lateral portio lower eyelid, exotropia, midfacial hypoplasia, short philtrum, thin upper lip, malocclusion; length 150 cm (−1.5 SD), weight 39 kg (−1.6 SD); psychomotor development delayed walk-4y no seizures/no epilepsy; ataxia; no cerebellar atrophy ventriculomegaly; platelet count 98,000/μl, platelet size increased hemoglobin 13.5 g/dl; white blood count 4,600/μl; progressive microcephaly; camptodactyly; lymphedema; no protein‐losing enteropathy; sensory neural hearing loss; 1y-patent ductus arteriosus surgically ligated inguinal hernia, operated Inheritance Isolated (sporadic) Age/Examination 18y (18 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 2020-06-14 16:28:21 +02:00 (CEST) Date last edited N/A

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