Global Variome shared LOVD

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Phenotype #0000300933 Individual ID 00408814 Associated disease JBTS Phenotype details mental retardation, visual impairment, neonatal hypotonia, psychomotor delay, walked at 4y, very poor language skills; blood urea and creatinine: normal; normal growth parameters, bilateral horizontal nystagmus, ataxia; fundus: retinitis pigmentosa; Brain magnetic resonance: hypoplasia of the cerebellar vermis with a molar tooth sign Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Joubert syndrome Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset - Phenotype/Onset mental retardation and visual impairment Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-28 13:58:18 +02:00 (CEST) Date last edited N/A

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