Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000310054 Individual ID 00418758 Associated disease JBTS Phenotype details height (in cm)/mean average population height (respective age and sex)152/162; weight (in kg)/mean average population weight (respective age and sex): 38/47hypotonia: mild; ataxia: mild; polydactyly/camptodactyly : no; polydactyly (feet): no; speech impairment: yes; hearing impairment: moderate (41 to 55 dB); visual impairment: no; intellectual disability: none; molar tooth sign: not assessed; blood creatinine mg/dl: 1; blood urea nitrogen mg/dl: 16 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Joubert syndrome Age/Examination 15y (15 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.