Global Variome shared LOVD

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Phenotype #0000079579 Individual ID 00101210 Associated disease HGPPS2 Phenotype details Agenesis of the corpus callosum. Absence of anterior and hippocampal commissures. Hypoplastic pons and midbrain. Midline cleft of the brainstem. Horizontal gaze palsy, intellectual disability, progressive scoliosis, global developmental delay, hypotonia. Mirror movements. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Ashley Marsh Database submission license No license selected Created by Ashley Marsh Date created 2017-03-24 12:51:08 +01:00 (CET) Date last edited 2017-04-15 05:41:59 +02:00 (CEST)

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