Phenotype #0000346117

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00457658
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	THMA1
Phenotype details	see paper; ..., height low, weightvery low, BMI low; no hypotonia, no motor disability; good speech; no seizures; no autism spectrum disorder; normal ambulation; feeding issues; prepubertal; no frequent infections
Inheritance	Familial, autosomal recessive
Age/Examination	8y7m (8 years, 7 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-15 16:44:05 +01:00 (CET)
Date last edited	N/A

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