Global Variome shared LOVD

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Phenotype #0000300386 Individual ID 00408258 Associated disease PCH Phenotype details deceased 22d; birth 34w; no prenatal growth retardation; cerebellar vermis hypoplasia; respiratory distress, axial hypotonia; swallowing defect, respiratory distress, recurrent apnea, bradycardia; 1d-height 33.5cm (+1.3 SD); dysphagia, nasogastric tube feeding; absent motor milestones; axial hypotonia; distal hypertonia; no seizure; MRI brain supratentorial normal, cerebellar hemisphere hypoplasia, cerebellar vermis hypoplasia, no brainstem hypoplasia; no eye tracking; hypertelorism, epicanthic fold; no oral cavity findings; no gastrointestinal abnormalities; apnea, oxygen therapy required in the context of prematurity Diagnosis/Initial pontocerebellar hypoplasia Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 2d 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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