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 InternationalCreative Commons License
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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