Global Variome shared LOVD

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

Phenotype #0000233300 Individual ID 00307875 Associated disease KRS;CLN12;PARK9 Phenotype details Visual impairment, Retinal dystrophy, Seizures, Muscular hypotonia, Global developmental delay, Brisk reflexes, Hepatomegaly, Exaggerated startle response, Elevated hepatic transaminase, Mongolian blue spot, Brain atrophy, Abnormal myelination Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 02y09m Age/Onset ? Phenotype/Onset - Protein - Owner name Corina-Marcela Rus Database submission license No license selected Created by Corina-Marcela Rus Date created 2020-08-20 02:33:10 +02:00 (CEST) Date last edited 2020-08-23 15:31:02 +02:00 (CEST)

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