Phenotype #0000210439

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00275839
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	SNIBCPS
Phenotype details	macrocephaly, dysmorphic features, corical visual impairment, severe intelectual disability, unilateral undescended Testicle
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Dong Li
Database submission license
Created by	Johan den Dunnen
Date created	2020-01-19 12:31:10 +01:00 (CET)
Date last edited	N/A

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