Phenotype #0000310038

Individual ID 00418743
Associated disease JBTS
Phenotype details cell line: longer cilia than the controls; after 48 hours of serum starvation fibroblasts were only 52.7% ciliated; phenotype: molar tooth sign: present; occipital encephalocele: absent; retinal dystrophy: present; coloboma: absent, left optic pit; kidney disease: absent; liver fibrosis: absent; polydactyly: absent; other: bilateral ptosis, cryptorchidism, clinodactyly
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 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-10-05 11:34:13 +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.