Phenotype #0000078520

Individual ID 00100300
Associated disease TKS
Phenotype details see paper; ..., macrothrombocytopenia, developmental delay; structural brain anomalies; growth retardation; facial dysmorphism; sensorineural deafness; camptodactily; no hypothyroidism; lymph edema; cardio-vascular anomalies; thrombocytopenia; recurrent infections; no inflammation; Eczema, inguinal hernia
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite TKS
Age/Examination 22y (22 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 15:46:32 +01:00 (CET)
Date last edited 2020-06-15 16:42:36 +02:00 (CEST)

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