Phenotype #0000234854

Individual ID 00309534
Associated disease JBTS
Phenotype details see paper; ..., developmental disability; no apnea, no tachypnea; abnormal eye movements; retinal dystrophy; no kidney abnormality; no liver abnormality; polydactyly; no coloboma; ptosis; no seizures; broad nasal bridge; thin upper lip; Y-shaped 2/3 toe syndactyly
Diagnosis/Initial Joubert syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite JBTS30
Age/Examination 4y (4 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-08-28 16:43:54 +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.