Phenotype #0000334380

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00445127
Associated disease	?
Diagnosis/Initial	Lenz microphthalmia syndrome
Diagnosis/Definite	-
Phenotype details	microphthalmia; narrow forehead, simple ears; atrial septal defect; multiple partial finger syndactyly, fifth finger clinodactyly, radioulnar synostosis; mental retardation, hypospadias
Inheritance	Familial, autosomal dominant
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-01-02 21:05:38 +01:00 (CET)
Date last edited	N/A

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