Phenotype #0000310053

Individual ID 00418757
Associated disease JBTS
Phenotype details height (in cm)/mean average population height (respective age and sex)158/164; weight (in kg)/mean average population weight (respective age and sex): 42/52hypotonia: 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: 0.7; blood urea nitrogen mg/dl: 13
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Joubert syndrome
Age/Examination 18y (18 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

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