Phenotype #0000352850 - Global Variome shared LOVD

Global Variome shared LOVD

TAOK3 (TAO kinase 3)

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

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Phenotype #0000352850

Individual ID	00467638
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	CDG2L
Phenotype details	see paper; ..., neurological disorders, multiple congenital anomalies; mental motor retardation, seizure, microcephaly, patent ductus arteriosus, cryptorchidism, hypothyroidism; abcent of MRI; operate patent ductus arteriosus
Inheritance	Familial, autosomal recessive
Age/Examination	10y9m (10 years, 9 months)
Age/Diagnosis	-
Age/Onset	3m
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-10-24 22:46:25 +02:00 (CEST)
Date last edited	N/A

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