Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000092260 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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