Phenotype #0000187509

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00248539
Associated disease	?
Diagnosis/Initial	22q13del syndrome
Diagnosis/Definite	-
Phenotype details	see paper; ..., late infantile metachromatic leukodystrophy, 22q13del syndrome, cognitive, developmental delay, dysmorphic
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	1 nmol/mg/h (normal = 20-110)
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-07-26 10:53:57 +02:00 (CEST)
Date last edited	N/A

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