Phenotype #0000230594

Individual ID 00303517
Associated disease TKS
Phenotype details see paper; 26y-died; ..., developmental delay; structural brain anomalies; growth retardation; facial dysmorphism; sensorineural deafness; camptodactily; no hypothyroidism; no lymph edema; cardio-vascular anomalies; thrombocytopenia; recurrent infections; lymphopenia; inflammation; liver hemangiomas, hepatosplenomegaly, spleen and kidney nodules, aortic aneurysm, scoliosis, lung hemorrhages
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite TKS
Age/Examination -
Age/Diagnosis 26y
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 2020-06-15 16:53:43 +02:00 (CEST)
Date last edited N/A

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