Global Variome shared LOVD

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

Phenotype #0000232681 Individual ID 00306853 Associated disease PCH6 Phenotype details neurodevelopmental delay. myoclonic seizures, , axial hypotonia with distal hypertonia, microcephaly, mixed hearing loss, abnormal breathing pattern, cryptorchidism Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 00y06m (6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Enza Maria Valente Database submission license No license selected Created by Enza Maria Valente Date created 2020-07-21 20:34:31 +02:00 (CEST) Date last edited 2020-07-22 08:46:45 +02:00 (CEST)

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