Phenotype #0000045424

Individual ID	00058835
Associated disease	JBTS
Phenotype details	Fetus (SW-476410) was diagnosed in utero with tecto-cerebellar dysraphia with occipital encephalocele findings in the spectrum of JS, due to the presence of a suboccipital encephalocele, dysplastic tectum, severe hypoplasia of the cerebellar vermis, and the MTS. In addition, post-mortem examination revealed cleft palate, narrow thorax with short ribs and secondary lung hypoplasia, and discrete rhizomelic shortening of limbs. Liver and kidneys were normal, and no polydactyly was observed.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Enza Maria Valente
Database submission license	No license selected
Created by	Enza Maria Valente
Date created	2016-02-08 12:47:47 +01:00 (CET)
Date last edited	2016-02-12 02:06:57 +01:00 (CET)

Global Variome shared LOVD