Global Variome shared LOVD

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Phenotype #0000045420 Individual ID 00058831 Associated disease JBTS Phenotype details He presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. Ataxia and neonatal breathing abnormalities were reported in this individual, abnormal ocular movements were observed in this proband. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. CC hypoplasia 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 11:58:19 +01:00 (CET) Date last edited 2016-02-12 02:05:39 +01:00 (CET)

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