Phenotype #0000053547

Individual ID	00017816
Associated disease	JBTS
Phenotype details	died at 3w, autopsy not performed, no clinical evidence renal malformations or other congenital anomalies; AP dimension of the mesencephalon was smaller than expected. The superior cerebellar peduncles were thick and had a more parallel configuration,giving rise to the molar tooth sign. The cerebellar vermis appeared hypoplastic, the medulla was mildly narrowed, and a mega cisterna magna was also seen
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 21:08:48 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD