Global Variome shared LOVD

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

Phenotype #0000210441 Individual ID 00275841 Associated disease ? Diagnosis/Initial - Diagnosis/Definite SNIBCPS Phenotype details microcephaly, severe intelectual disability, quadriparesis, dystonia, osteochondroma of humeri, right hip dysplasia, scoliosis, beaked nose, cleft palate Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Dong Li Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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