Phenotype #0000310056

Individual ID 00418760
Associated disease JBTS
Phenotype details height (in cm)/mean average population height (respective age and sex)155/168; weight (in kg)/mean average population weight (respective age and sex): 46/50hypotonia: 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: 1.12; blood urea nitrogen mg/dl: 12
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Joubert syndrome
Age/Examination 17y (17 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
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.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.