Global Variome shared LOVD

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

Phenotype #0000207573 Individual ID 00269769 Associated disease JBTS Phenotype details severe psychomotor delay; cerebellar vermis agenesis or hypoplasia, encephalocele; progressive renal dysfunction at infantile; 11y-dialysis; visual dysfunction from early stage; retinitis pigmentosa; unilateral or bilateral ptosis-like facial appearance; urinary examination: hypo-osmolality, high-level of beta2-microgloblin and/or NAG; ERG: no response or low voltage; polycystic kidney; nephronophthisis Diagnosis/Initial Arima syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - 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 2019-12-05 11:04:07 +01:00 (CET) Date last edited N/A

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