Global Variome shared LOVD

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Phenotype #0000300887 Individual ID 00408772 Associated disease JBTS Phenotype details hypotonia/ataxia, developmental delay, no mental retardation; oculomotor apraxia; no breathing abnormality; other abnormalities: spasticity; ocular signs: none, nystagmus; no renal abnormalities; no liver abnormalities ; no polydactyly; no cleft lip/palate; cerebellar vermis hypoplasia/molar tooth sign; no polymicrogyria; white matter abnormalities Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Joubert syndrome Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-27 13:11:01 +02:00 (CEST) Date last edited N/A

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