Global Variome shared LOVD

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Phenotype #0000078525 Individual ID 00100305 Associated disease TKS Phenotype details see paper; ...,developmental delay; structural brain anomalies; growth retardation; facial dysmorphism; sensorineural deafness; camptodactily; hypothyroidism; no lymph edema; no cardio-vascular anomalies; thrombocytopenia; recurrent infections; lymphopenia; no inflammation; hypogammaglobulinemia Diagnosis/Initial TKS Inheritance Isolated (sporadic) Diagnosis/Definite TKS Age/Examination 14y (14 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 16:02:13 +01:00 (CET) Date last edited 2020-06-15 16:44:54 +02:00 (CEST)

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