Global Variome shared LOVD

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

Phenotype #0000129842 Individual ID 00164827 Associated disease PCH9 Phenotype details Cognitive milestones: Absent OFC: -7 (‐8 SD) Cerebellum: Hypoplasia Pons: Hypoplasia Brainstem: “Figure 8” Corpus callosum: Severe hypoplasia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite PCH9 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Ashley Marsh Database submission license No license selected Created by Ashley Marsh Date created 2018-06-18 00:35:58 +02:00 (CEST) Date last edited 2018-06-20 15:08:26 +02:00 (CEST)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.