Global Variome shared LOVD

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Phenotype #0000300383 Individual ID 00408255 Associated disease PCH Phenotype details deceased 24w gestation; birth 24w; no prenatal growth retardation; cerebellar vermis hypoplasia; MRI brain supratentorial normal, no cerebellar hemisphere hypoplasia, cerebellar vermis hypoplasia, brainstem hypoplasia; no facial dysmorphism; posterior cleft palate; trabecular ventricular septal defect; no gastrointestinal abnormalities; no respiratory system anomalies; mild extremity malpositions Diagnosis/Initial pontocerebellar hypoplasia Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination <0d 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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