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 InternationalCreative Commons License
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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