Global Variome shared LOVD

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

Phenotype #0000129843 Individual ID 00164828 Associated disease PCH9 Phenotype details Cognitive milestones: Absent OFC: ‐6.5 (‐7.5 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 00:43:19 +02:00 (CEST) Date last edited 2018-06-20 15:09:16 +02:00 (CEST)

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