Phenotype #0000243182

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00324682
Associated disease	NDD
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Phenotype details	short stature; developmental delay/intellectual disability; epilepsy; hypotonia; ptosis; no hypothyroidism; cryptorchidism; atrial septal defect
Inheritance	Familial, autosomal recessive
Age/Examination	5y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-12-22 19:17:48 +01:00 (CET)
Date last edited	N/A

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