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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