Global Variome shared LOVD

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Phenotype #0000310058 Individual ID 00418762 Associated disease JBTS Phenotype details height (in cm)/mean average population height (respective age and sex)86/94; weight (in kg)/mean average population weight (respective age and sex): 28/29hypotonia: mild; ataxia: mild; polydactyly/camptodactyly : yes; polydactyly (feet): yes; speech impairment: none; hearing impairment: none; visual impairment: no; intellectual disability: none; molar tooth sign: not assessed; blood creatinine mg/dl: 0.8; blood urea nitrogen mg/dl: 13.9 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Joubert syndrome Age/Examination 10y (10 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 2022-10-05 22:31:33 +02:00 (CEST) Date last edited N/A

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