Global Variome shared LOVD

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Phenotype #0000321900 Individual ID 00431299 Associated disease ? Diagnosis/Initial - Diagnosis/Definite CAGSSS Phenotype details see paper; ..., intrauterine growth retardation; growth retardation (-6.2SDS); moderate intellectual disability (IQ 50), normal motor function; elevated ALAT and ASAT, neonatal onset (steatosis, fibrosis); 5y-sensoneurinal hearing loss; 16y-diabetes mellitus, epilepsy, zinc deficiency Inheritance Familial, autosomal recessive Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-02-07 20:54:06 +01:00 (CET) Date last edited N/A

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