Global Variome shared LOVD

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

Phenotype #0000003239 Individual ID 00004532 Associated disease PCH6 Phenotype details neonatal lactic acidosis, developmental delay, microcephaly, cortical atrophy, pontocerebellar hypoplasia on MRI Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Carl Fratter Database submission license No license selected Created by Johan den Dunnen Date created 2014-02-02 21:30:22 +01:00 (CET) Date last edited N/A

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