Phenotype #0000242261

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00320215
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	transfusion occasionally (every 2-6m); global developmental delay, macrocephaly, dystonia (axial hypotonia with appendicular hypertonia), delayed myelination, esotropia, frequent urinary tract infections
Inheritance	Familial, autosomal recessive
Age/Examination	03y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-11-24 13:23:14 +01:00 (CET)
Date last edited	2020-11-24 13:28:56 +01:00 (CET)

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