Global Variome shared LOVD

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

Phenotype #0000002848 Individual ID 00004055 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details characteristic Seckel facies, severe kyphoscoliosis leading to spinal cord compression and paraplegia, global developmental delay and intellectual disability Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Fowzan Alkuraya Database submission license No license selected Created by Fowzan Alkuraya Date created 2013-11-21 21:45:41 +01:00 (CET) Date last edited 2013-11-22 16:23:10 +01:00 (CET)

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