Global Variome shared LOVD

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

Phenotype #0000310055 Individual ID 00418759 Associated disease JBTS Phenotype details height (in cm)/mean average population height (respective age and sex)156/167; weight (in kg)/mean average population weight (respective age and sex): 35/53hypotonia: sever; ataxia: sever; polydactyly/camptodactyly : yes; polydactyly (feet): yes; speech impairment: mild; hearing impairment: mild (26 to 40 dB); visual impairment: no ; intellectual disability: apparent; molar tooth sign: yes; blood creatinine mg/dl: 0.93; blood urea nitrogen mg/dl: 13.6 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Joubert syndrome Age/Examination 20y (20 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.