Phenotype #0000053548

Individual ID 00017815
Associated disease JBTS
Phenotype details died at 28d; birth respiratory distress, absent inferior cerebellar vermis, dysplastic superior cerebellar vermis, posterior fossa cyst communicating
with the fourth ventricle, and a molar tooth sign secondary to thickened horizontal superior cerebellar peduncles and a reduced anteroposterior (AP) dimension of the mesencephalon
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Johan den Dunnen
Date created 2016-06-20 21:12:27 +02:00 (CEST)
Date last edited N/A

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