Phenotype #0000129845

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00164830
Associated disease	PCH9
Phenotype details	Cognitive milestones: Absent OFC: ‐5 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 00:57:28 +02:00 (CEST)
Date last edited	2018-06-20 15:10:37 +02:00 (CEST)

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