Global Variome shared LOVD

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

Phenotype #0000145661 Individual ID 00185530 Associated disease L2HGA Phenotype details walk 42m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones Diagnosis/Initial L2HGA Inheritance Familial, autosomal recessive Diagnosis/Definite L2HGA Age/Examination - Age/Diagnosis - Age/Onset 4m Phenotype/Onset - Protein - Owner name Gajja Salomons Database submission license No license selected Created by Gajja Salomons Date created 2016-01-05 14:59:57 +01:00 (CET) Date last edited N/A

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