Global Variome shared LOVD

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Phenotype #0000300384 Individual ID 00408256 Associated disease PCH Phenotype details deceased 4m; birth 37w; no prenatal growth retardation; cerebellar vermis hypoplasia; profound hypotonia; swallowing defect, respiratory distress, no cough reflex, bradycardia; dysphagia, nasogastric tube feeding; absent motor milestones; axial hypotonia; distal hypertonia; no seizure; MRI brain supratentorial normal, no cerebellar hemisphere hypoplasia, cerebellar vermis hypoplasia, brainstem hypoplasia; bilateral retinal hemorrhages; no facial dysmorphism; no oral cavity findings; ostium secundum atrial septal defect, patent ductus arteriosus; gastroesophageal reflux; oxygen therapy, base of the tongue ptosis, no cough reflex; mild feet malpositions Diagnosis/Initial pontocerebellar hypoplasia Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 1d Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-04-18 12:15:20 +02:00 (CEST) Date last edited N/A

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