Global Variome shared LOVD

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

Phenotype #0000093254 Individual ID 00117866 Associated disease CDG1P Phenotype details unremarkable prenatal and neonatal period, fat pads, hypotonia, deafness, oscillation of body temperature, developmental delay, mental retardation, epilepsy, strabismus convergens Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Christian Thiel Database submission license No license selected Created by Christian Thiel Date created 2011-11-09 12:09:27 +01:00 (CET) Date last edited 2011-11-11 14:55:53 +01:00 (CET)

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