Phenotype #0000092260

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00116781
Associated disease	SMA1
Phenotype details	microcephaly, lagophthalmos, exposure keratopathy, optic disc pallor, cerebral atrophy, small optic nerves, progressive cerebral volume loss
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	15m
Age/Onset	1d
Phenotype/Onset	-
Protein	-
Owner name	Kathleen Vinette
Database submission license	No license selected
Created by	Kathleen Vinette
Date created	2016-01-12 14:48:29 +01:00 (CET)
Date last edited	2016-01-14 16:03:03 +01:00 (CET)

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