Global Variome shared LOVD

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Phenotype #0000078521 Individual ID 00100301 Associated disease TKS Phenotype details see paper; ..., macrothrombocytopenia, developmental delay; structural brain anomalies; growth retardation; facial dysmorphism; sensorineural deafness; camptodactily; no hypothyroidism; lymph edema; no cardio-vascular anomalies; thrombocytopenia; no recurrent infections; lymphopenia; no inflammation; retinal dysplasia, intestinal lymphangiectasia Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite TKS Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-02-10 15:51:17 +01:00 (CET) Date last edited 2020-06-15 16:45:53 +02:00 (CEST)

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