Global Variome shared LOVD

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Phenotype #0000207571 Individual ID 00269767 Associated disease JBTS Phenotype details severe psychomotor delay; cerebellar vermis agenesis or hypoplasia; progressive renal dysfunction at infantile; 18y-dialysis; visual dysfunction from early stage; retinitis pigmentosa; unilateral or bilateral ptosis-like facial appearance; peculiar face: hyperterolism, saddle nose, large mouth; dehydration, growth retardation, fever of unknown origin ; urinary examination: hypo-osmolality, high-level of beta2-microgloblin and/or NAG; polycystic kidney 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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