Global Variome shared LOVD

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

Phenotype #0000002849 Individual ID 00004046 Associated disease SCKL2 Phenotype details microphthalmia, micrognathia, microglossia, and small teeth. Bilateral basal ganglia calcification and cerebellar calcification on brain MRI Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Fowzan Alkuraya Database submission license No license selected Created by Fowzan Alkuraya Date created 2013-11-21 22:10:17 +01:00 (CET) Date last edited 2013-11-22 15:20:19 +01:00 (CET)

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