Phenotype #0000045419

Individual ID 00058830
Associated disease JBTS
Phenotype details She presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. Midly ventriculomegaly
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 11:44:31 +01:00 (CET)
Date last edited 2016-02-12 02:05:17 +01:00 (CET)

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