Global Variome shared LOVD

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

Phenotype #0000234846 Individual ID 00309526 Associated disease JBTS Phenotype details see paper; ..., developmental disability; no apnea, no tachypnea; abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; polydactyly; no coloboma; ptosis; no seizures; lithium-induced hypo-thyroidism; L foot postaxial polydactyly Diagnosis/Initial Joubert syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite JBTS30 Age/Examination 29y (29 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-08-28 16:43:54 +02:00 (CEST) Date last edited N/A

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