Phenotype #0000337444

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00448234
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	HSAN9
Inheritance	Familial, autosomal recessive
Phenotype details	cerebellar vermis hypoplasia; perimembranous ventricular septal defect; oro-pharyngeal dysphagia
Age/Examination	2y (2 years)
Age/Diagnosis	2y5m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-02-23 14:52:21 +01:00 (CET)
Date last edited	N/A

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