Phenotype #0000230593

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00303516
Associated disease	TKS
Phenotype details	see paper; ..., developmental delay; structural brain anomalies; sensorineural deafness; no camptodactily; hypothyroidism; no lymph edema; thrombocytopenia; no recurrent infections
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	TKS
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-15 16:48:51 +02:00 (CEST)
Date last edited	N/A

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