Global Variome shared LOVD

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Phenotype #0000301080 Individual ID 00408962 Associated disease JBTS Phenotype details fetal cerebellar vermis hypoplasia (CV missing with the fourth ventricle communicating with the posterior fossa; molar tooth sign on the axial plane made up of the brain stem and bilaterally thickened, elongated superior cerebellar peduncle; the shape of the fourth ventricle changed and enlarged in the midsagittal section without a fastigium; molar tooth sign was observed at the pontomesencephalic level; dilated cisterna magna measuring 1.7 cm; in the midsagittal section, remnant of the superior cerebellar vermis; fourth ventricle was enlarged and communicating with the cisterna magna Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Joubert syndrome Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-29 09:53:02 +02:00 (CEST) Date last edited N/A

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